A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv983328



Internal ID18618522
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:52897420..52902354hg38UCSC Ensembl
Innerchr12:53291204..53296138hg19UCSC Ensembl
Innerchr12:51577471..51582405hg18UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg384935
hg194935
hg184935
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1931324, nssv1931319, nssv1931325, nssv1931323, nssv1931322, nssv1931320, nssv1931326, nssv1931321, nssv1931318, nssv1931327
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesKRT8
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv983328
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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