A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv976620



Internal ID18611826
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:52428096..52429243hg38UCSC Ensembl
Innerchr12:52821880..52823027hg19UCSC Ensembl
Innerchr12:51108147..51109294hg18UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg381148
hg191148
hg181148
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1930470, nssv1930468, nssv1930467, nssv1930474, nssv1930472, nssv1930473, nssv1930465, nssv1930471, nssv1930466, nssv1930469
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesKRT75
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv976620
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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