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nsv3913552

  • Variant Calls:1
  • Validation:Not tested
  • Clinical Assertions: Yes
  • Region Size:38,603,911
  • Description:GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3 AND See cases

Genome View

Select assembly:
Overlapping variant regions from other studies: 109765 SVs from 149 studies. See in: genome view    
Submitted genomic36,449,220-75,053,130Question Mark
Overlapping variant regions from other studies: 41617 SVs from 131 studies. See in: genome view    
Submitted genomic57,595,736-73,049,225Question Mark
Overlapping variant regions from other studies: 9987 SVs from 35 studies. See in: genome view    
Submitted genomic54,950,518-70,560,820Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeAssemblyAssembly UnitSequence IDChrInner StartInner Stop
nsv3913552Submitted genomicGRCh38 (hg38)Primary AssemblyNC_000017.11Chr1736,449,22075,053,130
nsv3913552Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000017.10Chr1757,595,73673,049,225
nsv3913552Submitted genomicNCBI36 (hg18)Primary AssemblyNC_000017.9Chr1754,950,51870,560,820

Variant Call Information

Variant Call IDTypeMethodAnalysisSubject PhenotypeClinical InterpretationSource of InterpretationClinVar IDCopy number
nssv15147369copy number gainMultipleMultipleSee casesPathogenicClinVarRCV000137437.9, VCV000148363.23

Variant Call Placement Information

Variant Call IDPlacement TypeHGVSAssemblySequence IDChrInner StartInner Stop
nssv15147369Submitted genomicNC_000017.11:g.(?_
36449220)_(7505313
0_?)dup
GRCh38 (hg38)NC_000017.11Chr1736,449,22075,053,130
nssv15147369Submitted genomicNC_000017.10:g.(?_
57595736)_(7304922
5_?)dup
GRCh37 (hg19)NC_000017.10Chr1757,595,73673,049,225
nssv15147369Submitted genomicNC_000017.9:g.(?_5
4950518)_(70560820
_?)dup
NCBI36 (hg18)NC_000017.9Chr1754,950,51870,560,820

No validation data were submitted for this variant

Clinical Assertions

Variant Call IDHGVSTypeAllele OriginSubject PhenotypeClinical InterpretationSource of InterpretationClinVar IDCopy number
nssv15147369GRCh37: NC_000017.10:g.(?_57595736)_(73049225_?)dup, GRCh38: NC_000017.11:g.(?_36449220)_(75053130_?)dup, NCBI36: NC_000017.9:g.(?_54950518)_(70560820_?)dupcopy number gainnot providedSee casesPathogenicClinVarRCV000137437.9, VCV000148363.23

No genotype data were submitted for this variant

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