A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1058813



Internal ID19148032
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:32102349..32292156hg38UCSC Ensembl
Innerchr16:32113670..32303477hg19UCSC Ensembl
Innerchr16:32021171..32210978hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38189808
hg19189808
hg18189808
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2849n100
Supporting Variantsnssv3716251, nssv3716250, nssv3716252
Samples
Known GenesHERC2P4, LOC390705, TP53TG3D
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1058813
Frequency
Sample Size11257
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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