A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv999943



Internal ID19159479
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:67724729..67978483hg38UCSC Ensembl
Innerchr2:67951861..68205615hg19UCSC Ensembl
Innerchr2:67805365..68059119hg18UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg38253755
hg19253755
hg18253755
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3577279
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv999943
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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