A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv584976



Internal ID16372385
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:241747460..241767316hg38UCSC Ensembl
Innerchr2:242686875..242706731hg19UCSC Ensembl
Innerchr2:242335548..242355404hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3819857
hg1919857
hg1819857
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv934781
Samples
Known GenesD2HGDH
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv584976
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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