A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv975516



Internal ID18610724
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:79490120..79509292hg38UCSC Ensembl
Innerchr12:79883900..79903072hg19UCSC Ensembl
Innerchr12:78408031..78427203hg18UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg3819173
hg1919173
hg1819173
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1940012, nssv1940003, nssv1940010, nssv1940007, nssv1940008, nssv1940004, nssv1940009, nssv1940005, nssv1940011, nssv1940006
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv975516
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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