A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv997519



Internal ID19157055
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:89933859..90228225hg38UCSC Ensembl
Innerchr2:89972669..90267091hg19UCSC Ensembl
Innerchr2:89609974..89904396hg18UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38294367
hg19294423
hg18294423
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3976n100
Supporting Variantsnssv3580503, nssv3580506, nssv3580505, nssv3580496, nssv3580502, nssv3580508, nssv3731293, nssv3580499, nssv3580498, nssv3580501, nssv3580500, nssv3580507, nssv3580504, nssv3580509, nssv3580497
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)nsv997519
Frequency
Sample Size11257
Observed Gain2
Observed Loss13
Observed Complex0
Frequencyn/a


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