A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv583611



Internal ID16371020
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:171826971..171893747hg38UCSC Ensembl
Innerchr2:172683481..172750257hg19UCSC Ensembl
Innerchr2:172391727..172458503hg18UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg3866777
hg1966777
hg1866777
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv925289
Samples
Known GenesSLC25A12
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv583611
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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