A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv583136



Internal ID16023859
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:130730100..130846832hg38UCSC Ensembl
Innerchr2:131487673..131604405hg19UCSC Ensembl
Innerchr2:131204143..131320875hg18UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg38116733
hg19116733
hg18116733
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv920057
Samples
Known GenesAMER3, GPR148
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv583136
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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