A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1055930



Internal ID18798461
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:77894052..78561070hg38UCSC Ensembl
Innerchr16:77927949..78594967hg19UCSC Ensembl
Innerchr16:76485450..77152468hg18UCSC Ensembl
Cytoband16q23.1
Allele length
AssemblyAllele length
hg38667019
hg19667019
hg18667019
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3031n100
Supporting Variantsnssv3559672, nssv3559673
Samples
Known GenesCLEC3A, VAT1L, WWOX
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1055930
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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