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nsv3912392

  • Variant Calls:1
  • Validation:Not tested
  • Clinical Assertions: Yes
  • Region Size:165,165
  • Description:NCBI36/hg18 6p22.1(chr6:29149562-29260804)x1 AND See cases

Links to Other Resources

Source: NCBI

Genome View

Select assembly:
Overlapping variant regions from other studies: 542 SVs from 74 studies. See in: genome view    
Remapped(Score: Perfect):29,040,530-29,205,643Question Mark
Overlapping variant regions from other studies: 155 SVs from 22 studies. See in: genome view    
Remapped(Score: Good):306,088-471,244Question Mark
Overlapping variant regions from other studies: 156 SVs from 22 studies. See in: genome view    
Remapped(Score: Good):349,890-515,054Question Mark
Overlapping variant regions from other studies: 155 SVs from 22 studies. See in: genome view    
Remapped(Score: Good):306,133-471,282Question Mark
Overlapping variant regions from other studies: 542 SVs from 74 studies. See in: genome view    
Remapped(Score: Perfect):29,008,307-29,173,420Question Mark
Overlapping variant regions from other studies: 155 SVs from 22 studies. See in: genome view    
Remapped(Score: Good):311,708-476,864Question Mark
Overlapping variant regions from other studies: 155 SVs from 22 studies. See in: genome view    
Remapped(Score: Good):311,718-476,867Question Mark
Overlapping variant regions from other studies: 156 SVs from 22 studies. See in: genome view    
Remapped(Score: Good):349,188-514,352Question Mark
Overlapping variant regions from other studies: 145 SVs from 18 studies. See in: genome view    
Submitted genomic29,116,286-29,281,399Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeScoreAssemblyAssembly UnitReciprocitySequence IDChrOuter StartInner StartInner StopOuter Stop
nsv3912392RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000006.12Chr629,040,53029,073,80629,185,04829,205,643
nsv3912392RemappedGoodGRCh38.p12ALT_REF_LOCI_4Second PassNT_167246.2Chr6|NT_16
7246.2		306,088306,088471,244471,244
nsv3912392RemappedGoodGRCh38.p12ALT_REF_LOCI_7Second PassNT_167249.2Chr6|NT_16
7249.2		349,890349,890515,054515,054
nsv3912392RemappedGoodGRCh38.p12ALT_REF_LOCI_3Second PassNT_167245.2Chr6|NT_16
7245.2		306,133306,133471,282471,282
nsv3912392RemappedPerfectGRCh37.p13Primary AssemblyFirst PassNC_000006.11Chr629,008,30729,041,58329,152,82529,173,420
nsv3912392RemappedGoodGRCh37.p13ALT_REF_LOCI_4Second PassNT_167246.1Chr6|NT_16
7246.1		311,708311,708476,864476,864
nsv3912392RemappedGoodGRCh37.p13ALT_REF_LOCI_3Second PassNT_167245.1Chr6|NT_16
7245.1		311,718311,718476,867476,867
nsv3912392RemappedGoodGRCh37.p13ALT_REF_LOCI_7Second PassNT_167249.1Chr6|NT_16
7249.1		349,188349,188514,352514,352
nsv3912392Submitted genomicNCBI36 (hg18)Primary AssemblyNC_000006.10Chr629,116,28629,149,56229,260,80429,281,399

Variant Call Information

Variant Call IDTypeMethodAnalysisSubject PhenotypeClinical InterpretationSource of InterpretationClinVar IDCopy number
nssv15129780copy number lossMultipleMultipleSee casesUncertain significanceClinVarRCV000453374.2, VCV000401647.21

Variant Call Placement Information

Variant Call IDPlacement TypeScoreHGVSAssemblyReciprocitySequence IDChrOuter StartInner StartInner StopOuter Stop
nssv15129780RemappedGoodNT_167246.2:g.(306
088_306088)_(47124
4_471244)del		GRCh38.p12Second PassNT_167246.2Chr6|NT_16
7246.2		306,088306,088471,244471,244
nssv15129780RemappedGoodNT_167249.2:g.(349
890_349890)_(51505
4_515054)del		GRCh38.p12Second PassNT_167249.2Chr6|NT_16
7249.2		349,890349,890515,054515,054
nssv15129780RemappedGoodNT_167245.2:g.(306
133_306133)_(47128
2_471282)del		GRCh38.p12Second PassNT_167245.2Chr6|NT_16
7245.2		306,133306,133471,282471,282
nssv15129780RemappedPerfectNC_000006.12:g.(29
040530_29073806)_(
29185048_29205643)
del		GRCh38.p12First PassNC_000006.12Chr629,040,53029,073,80629,185,04829,205,643
nssv15129780RemappedGoodNT_167246.1:g.(311
708_311708)_(47686
4_476864)del		GRCh37.p13Second PassNT_167246.1Chr6|NT_16
7246.1		311,708311,708476,864476,864
nssv15129780RemappedGoodNT_167245.1:g.(311
718_311718)_(47686
7_476867)del		GRCh37.p13Second PassNT_167245.1Chr6|NT_16
7245.1		311,718311,718476,867476,867
nssv15129780RemappedGoodNT_167249.1:g.(349
188_349188)_(51435
2_514352)del		GRCh37.p13Second PassNT_167249.1Chr6|NT_16
7249.1		349,188349,188514,352514,352
nssv15129780RemappedPerfectNC_000006.11:g.(29
008307_29041583)_(
29152825_29173420)
del		GRCh37.p13First PassNC_000006.11Chr629,008,30729,041,58329,152,82529,173,420
nssv15129780Submitted genomicNC_000006.10:g.(29
116286_29149562)_(
29260804_29281399)
del		NCBI36 (hg18)NC_000006.10Chr629,116,28629,149,56229,260,80429,281,399

No validation data were submitted for this variant

Clinical Assertions

Variant Call IDHGVSTypeAllele OriginSubject PhenotypeClinical InterpretationSource of InterpretationClinVar IDCopy number
nssv15129780NCBI36: NC_000006.10:g.(29116286_29149562)_(29260804_29281399)delcopy number lossnot providedSee casesUncertain significanceClinVarRCV000453374.2, VCV000401647.21

No genotype data were submitted for this variant

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