A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv575842



Internal ID16363251
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:61735387..61849946hg38UCSC Ensembl
Innerchr17:59812748..59927307hg19UCSC Ensembl
Innerchr17:57167530..57282089hg18UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg38114560
hg19114560
hg18114560
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5740n54
Supporting Variantsnssv875742
Samples
Known GenesBRIP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv575842
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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