A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv575918



Internal ID16363327
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:67982311..67993965hg38UCSC Ensembl
Innerchr17:65978427..65990081hg19UCSC Ensembl
Innerchr17:63408889..63420543hg18UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg3811655
hg1911655
hg1811655
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5754n54
Supporting Variantsnssv875899
Samples
Known GenesBPTF, C17orf58
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv575918
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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