A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv975494



Internal ID18610702
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:52794112..52795495hg38UCSC Ensembl
Innerchr12:53187896..53189279hg19UCSC Ensembl
Innerchr12:51474163..51475546hg18UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg381384
hg191384
hg181384
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1931813, nssv1931811, nssv1931815, nssv1931812, nssv1931808, nssv1931817, nssv1931809, nssv1931810, nssv1931816, nssv1931814
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesKRT3
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv975494
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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