A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv976622



Internal ID18611828
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:52776354..52777554hg38UCSC Ensembl
Innerchr12:53170138..53171338hg19UCSC Ensembl
Innerchr12:51456405..51457605hg18UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg381201
hg191201
hg181201
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1931185, nssv1931187, nssv1931188, nssv1931184, nssv1931191, nssv1931189, nssv1931183, nssv1931186, nssv1931192, nssv1931190
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesKRT76
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv976622
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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