A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv575844



Internal ID16016567
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:62121769..62356906hg38UCSC Ensembl
Innerchr17:60199130..60434267hg19UCSC Ensembl
Innerchr17:57553912..57787998hg18UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg38235138
hg19235138
hg18234087
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv875744
Samples
Known GenesTBC1D3P2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv575844
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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