A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv973057



Internal ID18608272
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:42213873..42217534hg38UCSC Ensembl
Innerchr12:42607675..42611336hg19UCSC Ensembl
Innerchr12:40893942..40897603hg18UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg383662
hg193662
hg183662
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1926037, nssv1926038, nssv1926035, nssv1925768, nssv1926041, nssv1926040, nssv1926039, nssv1925769, nssv1926034, nssv1926036
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesYAF2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv973057
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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