A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv969352



Internal ID18604579
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:18363391..18368612hg38UCSC Ensembl
Innerchr6:18363622..18368843hg19UCSC Ensembl
Innerchr6:18471601..18476822hg18UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg385222
hg195222
hg185222
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2395718, nssv2395714, nssv2395716, nssv2395721, nssv2395713, nssv2395712, nssv2395719, nssv2395715, nssv2395720, nssv2395717
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv969352
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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