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nsv3907553

  • Variant Calls:1
  • Validation:Not tested
  • Clinical Assertions: Yes
  • Region Size:6,962,276
  • Description:GRCh38/hg38 2q36.3-37.2(chr2:228014149-234976424)x3 AND See cases

Genome View

Select assembly:
Overlapping variant regions from other studies: 19980 SVs from 123 studies. See in: genome view    
Submitted genomic228,014,149-234,976,424Question Mark
Overlapping variant regions from other studies: 19953 SVs from 123 studies. See in: genome view    
Submitted genomic228,878,865-235,885,068Question Mark
Overlapping variant regions from other studies: 4745 SVs from 37 studies. See in: genome view    
Submitted genomic228,587,109-235,549,807Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeAssemblyAssembly UnitSequence IDChrInner StartInner Stop
nsv3907553Submitted genomicGRCh38 (hg38)Primary AssemblyNC_000002.12Chr2228,014,149234,976,424
nsv3907553Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000002.11Chr2228,878,865235,885,068
nsv3907553Submitted genomicNCBI36 (hg18)Primary AssemblyNC_000002.10Chr2228,587,109235,549,807

Variant Call Information

Variant Call IDTypeMethodAnalysisSubject PhenotypeClinical InterpretationSource of InterpretationClinVar IDCopy number
nssv15120397copy number gainMultipleMultipleSee casesPathogenicClinVarRCV000136967.4, VCV000147843.13

Variant Call Placement Information

Variant Call IDPlacement TypeHGVSAssemblySequence IDChrInner StartInner Stop
nssv15120397Submitted genomicNC_000002.12:g.(?_
228014149)_(234976
424_?)dup
GRCh38 (hg38)NC_000002.12Chr2228,014,149234,976,424
nssv15120397Submitted genomicNC_000002.11:g.(?_
228878865)_(235885
068_?)dup
GRCh37 (hg19)NC_000002.11Chr2228,878,865235,885,068
nssv15120397Submitted genomicNC_000002.10:g.(?_
228587109)_(235549
807_?)dup
NCBI36 (hg18)NC_000002.10Chr2228,587,109235,549,807

No validation data were submitted for this variant

Clinical Assertions

Variant Call IDHGVSTypeAllele OriginSubject PhenotypeClinical InterpretationSource of InterpretationClinVar IDCopy number
nssv15120397GRCh37: NC_000002.11:g.(?_228878865)_(235885068_?)dup, GRCh38: NC_000002.12:g.(?_228014149)_(234976424_?)dup, NCBI36: NC_000002.10:g.(?_228587109)_(235549807_?)dupcopy number gainde novoSee casesPathogenicClinVarRCV000136967.4, VCV000147843.13

No genotype data were submitted for this variant

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