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nsv3910997

  • Variant Calls:1
  • Validation:Not tested
  • Clinical Assertions: Yes
  • Region Size:130,070
  • Description:NCBI36/hg18 6p22.1(chr6:29108088-29210324)x1 AND See cases

Links to Other Resources

Source: NCBI

Genome View

Select assembly:
Overlapping variant regions from other studies: 453 SVs from 73 studies. See in: genome view    
Remapped(Score: Perfect):29,024,829-29,154,889Question Mark
Overlapping variant regions from other studies: 134 SVs from 22 studies. See in: genome view    
Remapped(Score: Good):290,387-420,452Question Mark
Overlapping variant regions from other studies: 135 SVs from 22 studies. See in: genome view    
Remapped(Score: Good):334,188-464,257Question Mark
Overlapping variant regions from other studies: 134 SVs from 22 studies. See in: genome view    
Remapped(Score: Good):290,432-420,496Question Mark
Overlapping variant regions from other studies: 453 SVs from 73 studies. See in: genome view    
Remapped(Score: Perfect):28,992,606-29,122,666Question Mark
Overlapping variant regions from other studies: 134 SVs from 22 studies. See in: genome view    
Remapped(Score: Good):296,007-426,072Question Mark
Overlapping variant regions from other studies: 134 SVs from 22 studies. See in: genome view    
Remapped(Score: Good):296,017-426,081Question Mark
Overlapping variant regions from other studies: 135 SVs from 22 studies. See in: genome view    
Remapped(Score: Good):333,486-463,555Question Mark
Overlapping variant regions from other studies: 123 SVs from 18 studies. See in: genome view    
Submitted genomic29,100,585-29,230,645Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeScoreAssemblyAssembly UnitReciprocitySequence IDChrOuter StartInner StartInner StopOuter Stop
nsv3910997RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000006.12Chr629,024,82929,032,33229,134,56829,154,889
nsv3910997RemappedGoodGRCh38.p12ALT_REF_LOCI_4Second PassNT_167246.2Chr6|NT_16
7246.2		290,387290,387420,452420,452
nsv3910997RemappedGoodGRCh38.p12ALT_REF_LOCI_7Second PassNT_167249.2Chr6|NT_16
7249.2		334,188334,188464,257464,257
nsv3910997RemappedGoodGRCh38.p12ALT_REF_LOCI_3Second PassNT_167245.2Chr6|NT_16
7245.2		290,432290,432420,496420,496
nsv3910997RemappedPerfectGRCh37.p13Primary AssemblyFirst PassNC_000006.11Chr628,992,60629,000,10929,102,34529,122,666
nsv3910997RemappedGoodGRCh37.p13ALT_REF_LOCI_4Second PassNT_167246.1Chr6|NT_16
7246.1		296,007296,007426,072426,072
nsv3910997RemappedGoodGRCh37.p13ALT_REF_LOCI_3Second PassNT_167245.1Chr6|NT_16
7245.1		296,017296,017426,081426,081
nsv3910997RemappedGoodGRCh37.p13ALT_REF_LOCI_7Second PassNT_167249.1Chr6|NT_16
7249.1		333,486333,486463,555463,555
nsv3910997Submitted genomicNCBI36 (hg18)Primary AssemblyNC_000006.10Chr629,100,58529,108,08829,210,32429,230,645

Variant Call Information

Variant Call IDTypeMethodAnalysisSubject PhenotypeClinical InterpretationSource of InterpretationClinVar IDCopy number
nssv15125719copy number lossMultipleMultipleSee casesUncertain significanceClinVarRCV000451457.2, VCV000401528.21

Variant Call Placement Information

Variant Call IDPlacement TypeScoreHGVSAssemblyReciprocitySequence IDChrOuter StartInner StartInner StopOuter Stop
nssv15125719RemappedGoodNT_167246.2:g.(290
387_290387)_(42045
2_420452)del		GRCh38.p12Second PassNT_167246.2Chr6|NT_16
7246.2		290,387290,387420,452420,452
nssv15125719RemappedGoodNT_167249.2:g.(334
188_334188)_(46425
7_464257)del		GRCh38.p12Second PassNT_167249.2Chr6|NT_16
7249.2		334,188334,188464,257464,257
nssv15125719RemappedGoodNT_167245.2:g.(290
432_290432)_(42049
6_420496)del		GRCh38.p12Second PassNT_167245.2Chr6|NT_16
7245.2		290,432290,432420,496420,496
nssv15125719RemappedPerfectNC_000006.12:g.(29
024829_29032332)_(
29134568_29154889)
del		GRCh38.p12First PassNC_000006.12Chr629,024,82929,032,33229,134,56829,154,889
nssv15125719RemappedGoodNT_167246.1:g.(296
007_296007)_(42607
2_426072)del		GRCh37.p13Second PassNT_167246.1Chr6|NT_16
7246.1		296,007296,007426,072426,072
nssv15125719RemappedGoodNT_167245.1:g.(296
017_296017)_(42608
1_426081)del		GRCh37.p13Second PassNT_167245.1Chr6|NT_16
7245.1		296,017296,017426,081426,081
nssv15125719RemappedGoodNT_167249.1:g.(333
486_333486)_(46355
5_463555)del		GRCh37.p13Second PassNT_167249.1Chr6|NT_16
7249.1		333,486333,486463,555463,555
nssv15125719RemappedPerfectNC_000006.11:g.(28
992606_29000109)_(
29102345_29122666)
del		GRCh37.p13First PassNC_000006.11Chr628,992,60629,000,10929,102,34529,122,666
nssv15125719Submitted genomicNC_000006.10:g.(29
100585_29108088)_(
29210324_29230645)
del		NCBI36 (hg18)NC_000006.10Chr629,100,58529,108,08829,210,32429,230,645

No validation data were submitted for this variant

Clinical Assertions

Variant Call IDHGVSTypeAllele OriginSubject PhenotypeClinical InterpretationSource of InterpretationClinVar IDCopy number
nssv15125719NCBI36: NC_000006.10:g.(29100585_29108088)_(29210324_29230645)delcopy number lossnot providedSee casesUncertain significanceClinVarRCV000451457.2, VCV000401528.21

No genotype data were submitted for this variant

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