A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv927188



Internal ID16221144
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:178193987..178195151hg38UCSC Ensembl
Innerchr2:179058714..179059878hg19UCSC Ensembl
Innerchr2:178766960..178768124hg18UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg381165
hg191165
hg181165
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv583744
Supporting Variants
Samples
Known GenesOSBPL6
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv927188
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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