A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv975535



Internal ID18264057
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:122768727..122771494hg38UCSC Ensembl
Innerchr12:123253274..123256041hg19UCSC Ensembl
Innerchr12:121819227..121821994hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg382768
hg192768
hg182768
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1947239, nssv1947240, nssv1947236, nssv1947233, nssv1947241, nssv1947238, nssv1947235, nssv1947242, nssv1947234, nssv1947237
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesDENR
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv975535
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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