A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv975448



Internal ID18263970
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:10435206..10447816hg38UCSC Ensembl
Innerchr12:10587805..10600415hg19UCSC Ensembl
Innerchr12:10479072..10491682hg18UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3812611
hg1912611
hg1812611
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1916126, nssv1916125, nssv1916129, nssv1916131, nssv1916132, nssv1916124, nssv1916127, nssv1916133, nssv1916128, nssv1916130
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesKLRC1, KLRC2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv975448
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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