A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv575845



Internal ID16363254
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:62334347..62377715hg38UCSC Ensembl
Innerchr17:60411708..60455076hg19UCSC Ensembl
Innerchr17:57766490..57808808hg18UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg3843369
hg1943369
hg1842319
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv875745
Samples
Known GenesEFCAB3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv575845
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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