A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1040762



Internal ID18783293
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:63599815..63733386hg38UCSC Ensembl
Innerchr13:64173948..64307519hg19UCSC Ensembl
Innerchr13:63071949..63205520hg18UCSC Ensembl
Cytoband13q21.31
Allele length
AssemblyAllele length
hg38133572
hg19133572
hg18133572
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1685n100
Supporting Variantsnssv3526607
Samples
Known GenesLINC00395
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1040762
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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