A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1063340



Internal ID18805871
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:90045818..90221115hg38UCSC Ensembl
Innerchr16:90112226..90287523hg19UCSC Ensembl
Innerchr16:88639727..88815024hg18UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg38175298
hg19175298
hg18175298
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3067n100
Supporting Variantsnssv3719129, nssv3560018, nssv3560017
Samples
Known GenesPRDM7, URAHP
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1063340
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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