A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv983281



Internal ID18271789
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:10421334..10430986hg38UCSC Ensembl
Innerchr12:10573933..10583585hg19UCSC Ensembl
Innerchr12:10465200..10474852hg18UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg389653
hg199653
hg189653
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1916032, nssv1916033, nssv1916036, nssv1916031, nssv1916030, nssv1916035, nssv1916037, nssv1916039, nssv1916034, nssv1916038
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesKLRC2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv983281
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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