A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv583367



Internal ID16370776
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:153834664..153892470hg38UCSC Ensembl
Innerchr2:154691177..154748983hg19UCSC Ensembl
Innerchr2:154399423..154457229hg18UCSC Ensembl
Cytoband2q23.3
Allele length
AssemblyAllele length
hg3857807
hg1957807
hg1857807
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv921608
Samples
Known GenesGALNT13
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv583367
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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