A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv582594



Internal ID16023317
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:106262145..107691117hg38UCSC Ensembl
Innerchr2:106878601..108307573hg19UCSC Ensembl
Innerchr2:106245033..107674005hg18UCSC Ensembl
Cytoband2q12.2
Allele length
AssemblyAllele length
hg381428973
hg191428973
hg181428973
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6988n54
Supporting Variantsnssv915147
Samples
Known GenesPLGLA, RGPD3, ST6GAL2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv582594
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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