A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv998961



Internal ID19158497
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:78346955..78922961hg38UCSC Ensembl
Innerchr2:78574081..79150087hg19UCSC Ensembl
Innerchr2:78427589..79003595hg18UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg38576007
hg19576007
hg18576007
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3582109
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)nsv998961
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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