A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv976617



Internal ID18265137
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:52315790..52317118hg38UCSC Ensembl
Innerchr12:52709574..52710902hg19UCSC Ensembl
Innerchr12:50995841..50997169hg18UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg381329
hg191329
hg181329
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1929391, nssv1929386, nssv1929387, nssv1929390, nssv1929388, nssv1929389, nssv1929383, nssv1929382, nssv1929384, nssv1929385
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesKRT83
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv976617
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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