A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv583751



Internal ID16371160
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:178194197..178194931hg38UCSC Ensembl
Innerchr2:179058924..179059658hg19UCSC Ensembl
Innerchr2:178767170..178767904hg18UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg38735
hg19735
hg18735
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv927203, nssv927204
Samples
Known GenesOSBPL6
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv583751
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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