A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv973094



Internal ID18261623
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:79588570..79589729hg38UCSC Ensembl
Innerchr12:79982350..79983509hg19UCSC Ensembl
Innerchr12:78506481..78507640hg18UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg381160
hg191160
hg181160
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1940102, nssv1940108, nssv1940105, nssv1940103, nssv1940104, nssv1940109, nssv1940106, nssv1940100, nssv1940107, nssv1940101
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)nsv973094
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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