A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1001603



Internal ID18744134
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:216327457..216442936hg38UCSC Ensembl
Innerchr2:217192180..217307659hg19UCSC Ensembl
Innerchr2:216900425..217015904hg18UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg38115480
hg19115480
hg18115480
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3586808
Samples
Known GenesMARCH4, SMARCAL1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1001603
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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