A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv998912



Internal ID18811762
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:43780254..43835757hg38UCSC Ensembl
Innerchr2:44007393..44062896hg19UCSC Ensembl
Innerchr2:43860897..43916400hg18UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3855504
hg1955504
hg1855504
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3581582
Samples
Known GenesABCG5, DYNC2LI1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv998912
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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