A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv973132



Internal ID18261661
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:122700236..122716990hg38UCSC Ensembl
Innerchr12:123184783..123201537hg19UCSC Ensembl
Innerchr12:121750736..121767490hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3816755
hg1916755
hg1816755
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1947144, nssv1947139, nssv1947142, nssv1947136, nssv1947143, nssv1947137, nssv1947140, nssv1947145, nssv1947138, nssv1947141
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesHCAR2, HCAR3
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv973132
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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