A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv575797



Internal ID16016520
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:58180623..58212973hg38UCSC Ensembl
Innerchr17:56257984..56290334hg19UCSC Ensembl
Innerchr17:53612983..53645333hg18UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg3832351
hg1932351
hg1832351
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1149775
Samples1780854491_A
Known GenesEPX, MKS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv575797
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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