A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv976623



Internal ID18611829
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:52812870..52813900hg38UCSC Ensembl
Innerchr12:53206654..53207684hg19UCSC Ensembl
Innerchr12:51492921..51493951hg18UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg381031
hg191031
hg181031
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1931906, nssv1931911, nssv1931909, nssv1931914, nssv1931905, nssv1931908, nssv1931912, nssv1931913, nssv1931907, nssv1931910
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesKRT4
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv976623
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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