A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv576217



Internal ID16016940
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:82937869..82960820hg38UCSC Ensembl
Innerchr17:80895745..80918696hg19UCSC Ensembl
Innerchr17:78489034..78511985hg18UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3822952
hg1922952
hg1822952
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv877270
Samples
Known GenesB3GNTL1, TBCD
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv576217
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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