A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv583039



Internal ID16023762
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:128216659..128282150hg38UCSC Ensembl
Innerchr2:128974233..129039724hg19UCSC Ensembl
Innerchr2:128690703..128756194hg18UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg3865492
hg1965492
hg1865492
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv919666
Samples
Known GenesHS6ST1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv583039
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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