A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1065249



Internal ID18807780
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:84435765..84556540hg38UCSC Ensembl
Innerchr16:84469371..84590146hg19UCSC Ensembl
Innerchr16:83026872..83147647hg18UCSC Ensembl
Cytoband16q24.1
Allele length
AssemblyAllele length
hg38120776
hg19120776
hg18120776
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3559955
Samples
Known GenesATP2C2, TLDC1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1065249
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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