A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv973095



Internal ID18608310
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:80028865..80029955hg38UCSC Ensembl
Innerchr12:80422645..80423735hg19UCSC Ensembl
Innerchr12:78946776..78947866hg18UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg381091
hg191091
hg181091
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1939156, nssv1939154, nssv1939153, nssv1939159, nssv1939152, nssv1939155, nssv1939151, nssv1939158, nssv1939150, nssv1939157
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)nsv973095
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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