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nsv3918042

  • Variant Calls:1
  • Validation:Not tested
  • Clinical Assertions: Yes
  • Region Size:478,135
  • Description:NCBI36/hg18 6p22.1(chr6:29030746-29433836)x3 AND See cases

Links to Other Resources

Source: NCBI

Genome View

Select assembly:
Overlapping variant regions from other studies: 1209 SVs from 88 studies. See in: genome view    
Remapped(Score: Perfect):28,911,643-29,389,777Question Mark
Overlapping variant regions from other studies: 92 SVs from 16 studies. See in: genome view    
Remapped(Score: Pass):181,174-630,323Question Mark
Overlapping variant regions from other studies: 278 SVs from 24 studies. See in: genome view    
Remapped(Score: Pass):233,925-673,942Question Mark
Overlapping variant regions from other studies: 309 SVs from 25 studies. See in: genome view    
Remapped(Score: Pass):178,625-630,101Question Mark
Overlapping variant regions from other studies: 256 SVs from 23 studies. See in: genome view    
Remapped(Score: Pass):240,377-616,872Question Mark
Overlapping variant regions from other studies: 1209 SVs from 88 studies. See in: genome view    
Remapped(Score: Perfect):28,879,420-29,357,554Question Mark
Overlapping variant regions from other studies: 256 SVs from 23 studies. See in: genome view    
Remapped(Score: Pass):245,961-622,457Question Mark
Overlapping variant regions from other studies: 90 SVs from 15 studies. See in: genome view    
Remapped(Score: Pass):186,758-635,908Question Mark
Overlapping variant regions from other studies: 281 SVs from 24 studies. See in: genome view    
Remapped(Score: Pass):233,223-673,240Question Mark
Overlapping variant regions from other studies: 306 SVs from 25 studies. See in: genome view    
Remapped(Score: Pass):184,244-635,721Question Mark
Overlapping variant regions from other studies: 304 SVs from 20 studies. See in: genome view    
Submitted genomic28,987,399-29,465,533Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeScoreAssemblyAssembly UnitReciprocitySequence IDChrOuter StartInner StartInner StopOuter Stop
nsv3918042RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000006.12Chr628,911,64328,954,99029,358,08029,389,777
nsv3918042RemappedPassGRCh38.p12ALT_REF_LOCI_5Second PassNT_167247.2Chr6|NT_16
7247.2		-181,174630,323-
nsv3918042RemappedPassGRCh38.p12ALT_REF_LOCI_7Second PassNT_167249.2Chr6|NT_16
7249.2		-233,925673,942-
nsv3918042RemappedPassGRCh38.p12ALT_REF_LOCI_4Second PassNT_167246.2Chr6|NT_16
7246.2		-178,625630,101-
nsv3918042RemappedPassGRCh38.p12ALT_REF_LOCI_3Second PassNT_167245.2Chr6|NT_16
7245.2		-240,377616,872-
nsv3918042RemappedPerfectGRCh37.p13Primary AssemblyFirst PassNC_000006.11Chr628,879,42028,922,76729,325,85729,357,554
nsv3918042RemappedPassGRCh37.p13ALT_REF_LOCI_3Second PassNT_167245.1Chr6|NT_16
7245.1		-245,961622,457-
nsv3918042RemappedPassGRCh37.p13ALT_REF_LOCI_5Second PassNT_167247.1Chr6|NT_16
7247.1		-186,758635,908-
nsv3918042RemappedPassGRCh37.p13ALT_REF_LOCI_7Second PassNT_167249.1Chr6|NT_16
7249.1		-233,223673,240-
nsv3918042RemappedPassGRCh37.p13ALT_REF_LOCI_4Second PassNT_167246.1Chr6|NT_16
7246.1		-184,244635,721-
nsv3918042Submitted genomicNCBI36 (hg18)Primary AssemblyNC_000006.10Chr628,987,39929,030,74629,433,83629,465,533

Variant Call Information

Variant Call IDTypeMethodAnalysisSubject PhenotypeClinical InterpretationSource of InterpretationClinVar IDCopy number
nssv15128775copy number gainMultipleMultipleSee casesUncertain significanceClinVarRCV000452768.2, VCV000399342.23

Variant Call Placement Information

Variant Call IDPlacement TypeScoreHGVSAssemblyReciprocitySequence IDChrOuter StartInner StartInner StopOuter Stop
nssv15128775RemappedPassNT_167246.2:g.(?_1
78625)_(630101_?)d
up		GRCh38.p12Second PassNT_167246.2Chr6|NT_16
7246.2		-178,625630,101-
nssv15128775RemappedPassNT_167247.2:g.(?_1
81174)_(630323_?)d
up		GRCh38.p12Second PassNT_167247.2Chr6|NT_16
7247.2		-181,174630,323-
nssv15128775RemappedPassNT_167249.2:g.(?_2
33925)_(673942_?)d
up		GRCh38.p12Second PassNT_167249.2Chr6|NT_16
7249.2		-233,925673,942-
nssv15128775RemappedPassNT_167245.2:g.(?_2
40377)_(616872_?)d
up		GRCh38.p12Second PassNT_167245.2Chr6|NT_16
7245.2		-240,377616,872-
nssv15128775RemappedPerfectNC_000006.12:g.(28
911643_28954990)_(
29358080_29389777)
dup		GRCh38.p12First PassNC_000006.12Chr628,911,64328,954,99029,358,08029,389,777
nssv15128775RemappedPassNT_167246.1:g.(?_1
84244)_(635721_?)d
up		GRCh37.p13Second PassNT_167246.1Chr6|NT_16
7246.1		-184,244635,721-
nssv15128775RemappedPassNT_167247.1:g.(?_1
86758)_(635908_?)d
up		GRCh37.p13Second PassNT_167247.1Chr6|NT_16
7247.1		-186,758635,908-
nssv15128775RemappedPassNT_167249.1:g.(?_2
33223)_(673240_?)d
up		GRCh37.p13Second PassNT_167249.1Chr6|NT_16
7249.1		-233,223673,240-
nssv15128775RemappedPassNT_167245.1:g.(?_2
45961)_(622457_?)d
up		GRCh37.p13Second PassNT_167245.1Chr6|NT_16
7245.1		-245,961622,457-
nssv15128775RemappedPerfectNC_000006.11:g.(28
879420_28922767)_(
29325857_29357554)
dup		GRCh37.p13First PassNC_000006.11Chr628,879,42028,922,76729,325,85729,357,554
nssv15128775Submitted genomicNC_000006.10:g.(28
987399_29030746)_(
29433836_29465533)
dup		NCBI36 (hg18)NC_000006.10Chr628,987,39929,030,74629,433,83629,465,533

No validation data were submitted for this variant

Clinical Assertions

Variant Call IDHGVSTypeAllele OriginSubject PhenotypeClinical InterpretationSource of InterpretationClinVar IDCopy number
nssv15128775NCBI36: NC_000006.10:g.(28987399_29030746)_(29433836_29465533)dupcopy number gainnot providedSee casesUncertain significanceClinVarRCV000452768.2, VCV000399342.23

No genotype data were submitted for this variant

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