A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv976632



Internal ID18611838
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:61231583..61242242hg38UCSC Ensembl
Innerchr12:61625364..61636023hg19UCSC Ensembl
Innerchr12:59911631..59922290hg18UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg3810660
hg1910660
hg1810660
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1935092, nssv1935088, nssv1935095, nssv1935089, nssv1935094, nssv1935091, nssv1935090, nssv1935093, nssv1935086, nssv1935087
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)nsv976632
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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