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nsv3903429

  • Variant Calls:1
  • Validation:Not tested
  • Clinical Assertions: Yes
  • Region Size:6,048,264
  • Description:GRCh38/hg38 1q21.1-21.2(chr1:143515074-149563337)x1 AND See cases

Genome View

Select assembly:
Overlapping variant regions from other studies: 13553 SVs from 131 studies. See in: genome view    
Submitted genomic143,515,074-149,563,337Question Mark
Overlapping variant regions from other studies: 9295 SVs from 128 studies. See in: genome view    
Submitted genomic145,415,156-149,433,207Question Mark
Overlapping variant regions from other studies: 3198 SVs from 35 studies. See in: genome view    
Submitted genomic144,126,513-147,699,831Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeAssemblyAssembly UnitSequence IDChrInner StartInner Stop
nsv3903429Submitted genomicGRCh38 (hg38)Primary AssemblyNC_000001.11Chr1143,515,074149,563,337
nsv3903429Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000001.10Chr1145,415,156149,433,207
nsv3903429Submitted genomicNCBI36 (hg18)Primary AssemblyNC_000001.9Chr1144,126,513147,699,831

Variant Call Information

Variant Call IDTypeMethodAnalysisSubject PhenotypeClinical InterpretationSource of InterpretationClinVar IDCopy number
nssv15137633copy number lossMultipleMultipleSee casesPathogenicClinVarRCV000139762.4, VCV000150976.21

Variant Call Placement Information

Variant Call IDPlacement TypeHGVSAssemblySequence IDChrInner StartInner Stop
nssv15137633Submitted genomicNC_000001.11:g.(?_
143515074)_(149563
337_?)del
GRCh38 (hg38)NC_000001.11Chr1143,515,074149,563,337
nssv15137633Submitted genomicNC_000001.10:g.(?_
145415156)_(149433
207_?)del
GRCh37 (hg19)NC_000001.10Chr1145,415,156149,433,207
nssv15137633Submitted genomicNC_000001.9:g.(?_1
44126513)_(1476998
31_?)del
NCBI36 (hg18)NC_000001.9Chr1144,126,513147,699,831

No validation data were submitted for this variant

Clinical Assertions

Variant Call IDHGVSTypeAllele OriginSubject PhenotypeClinical InterpretationSource of InterpretationClinVar IDCopy number
nssv15137633GRCh37: NC_000001.10:g.(?_145415156)_(149433207_?)del, GRCh38: NC_000001.11:g.(?_143515074)_(149563337_?)del, NCBI36: NC_000001.9:g.(?_144126513)_(147699831_?)delcopy number lossnot providedSee casesPathogenicClinVarRCV000139762.4, VCV000150976.21

No genotype data were submitted for this variant

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