A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv572976



Internal ID16360385
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:74725086..74873542hg38UCSC Ensembl
Innerchr16:74758984..74907440hg19UCSC Ensembl
Innerchr16:73316485..73464941hg18UCSC Ensembl
Cytoband16q23.1
Allele length
AssemblyAllele length
hg38148457
hg19148457
hg18148457
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1149715
SamplesHGDP00538
Known GenesFA2H
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv572976
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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