A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv572951



Internal ID16360360
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:72057155..72077447hg38UCSC Ensembl
Innerchr16:72091054..72111346hg19UCSC Ensembl
Innerchr16:70648555..70668847hg18UCSC Ensembl
Cytoband16q22.2
Allele length
AssemblyAllele length
hg3820293
hg1920293
hg1820293
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv859124
Samples
Known GenesHP, HPR
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv572951
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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