A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv976621



Internal ID18265141
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:52587410..52588003hg38UCSC Ensembl
Innerchr12:52981194..52981787hg19UCSC Ensembl
Innerchr12:51267461..51268054hg18UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg38594
hg19594
hg18594
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1930893, nssv1930896, nssv1930901, nssv1930897, nssv1930898, nssv1930900, nssv1930894, nssv1930895, nssv1930892, nssv1930899
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesKRT72
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv976621
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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