U.S. flag

An official website of the United States government

nsv3896927

  • Variant Calls:1
  • Validation:Not tested
  • Clinical Assertions: Yes
  • Region Size:24,172,414
  • Description:GRCh38/hg38 1p32.3-31.1(chr1:52595352-76767765)x3 AND See cases

Genome View

Select assembly:
Overlapping variant regions from other studies: 56613 SVs from 131 studies. See in: genome view    
Submitted genomic52,595,352-76,767,765Question Mark
Overlapping variant regions from other studies: 56619 SVs from 131 studies. See in: genome view    
Submitted genomic53,061,024-77,233,450Question Mark
Overlapping variant regions from other studies: 15126 SVs from 38 studies. See in: genome view    
Submitted genomic52,833,612-77,006,038Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeAssemblyAssembly UnitSequence IDChrInner StartInner Stop
nsv3896927Submitted genomicGRCh38 (hg38)Primary AssemblyNC_000001.11Chr152,595,35276,767,765
nsv3896927Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000001.10Chr153,061,02477,233,450
nsv3896927Submitted genomicNCBI36 (hg18)Primary AssemblyNC_000001.9Chr152,833,61277,006,038

Variant Call Information

Variant Call IDTypeMethodAnalysisSubject PhenotypeClinical InterpretationSource of InterpretationClinVar IDCopy number
nssv15146385copy number gainMultipleMultipleSee casesPathogenicClinVarRCV000051822.6, VCV000058079.13

Variant Call Placement Information

Variant Call IDPlacement TypeHGVSAssemblySequence IDChrInner StartInner Stop
nssv15146385Submitted genomicNC_000001.11:g.(?_
52595352)_(7676776
5_?)dup
GRCh38 (hg38)NC_000001.11Chr152,595,35276,767,765
nssv15146385Submitted genomicNC_000001.10:g.(?_
53061024)_(7723345
0_?)dup
GRCh37 (hg19)NC_000001.10Chr153,061,02477,233,450
nssv15146385Submitted genomicNC_000001.9:g.(?_5
2833612)_(77006038
_?)dup
NCBI36 (hg18)NC_000001.9Chr152,833,61277,006,038

No validation data were submitted for this variant

Clinical Assertions

Variant Call IDHGVSTypeAllele OriginSubject PhenotypeClinical InterpretationSource of InterpretationClinVar IDCopy number
nssv15146385GRCh37: NC_000001.10:g.(?_53061024)_(77233450_?)dup, GRCh38: NC_000001.11:g.(?_52595352)_(76767765_?)dup, NCBI36: NC_000001.9:g.(?_52833612)_(77006038_?)dupcopy number gainnot providedSee casesPathogenicClinVarRCV000051822.6, VCV000058079.13

No genotype data were submitted for this variant

Support Center