A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3500648



Internal ID19088289
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:164376569..164399355hg38UCSC Ensembl
Innerchr1:164345806..164368592hg19UCSC Ensembl
Innerchr1:162612430..162635216hg18UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg3822787
hg1922787
hg1822787
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1000565
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3500648
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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