A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv981141



Internal ID18616340
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:47562699..47563323hg38UCSC Ensembl
Innerchr6:47530435..47531059hg19UCSC Ensembl
Innerchr6:47638394..47639018hg18UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg38625
hg19625
hg18625
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2406896, nssv2406902, nssv2406899, nssv2406903, nssv2406904, nssv2406898, nssv2406905, nssv2406901, nssv2406900, nssv2406897
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesCD2AP
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv981141
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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