A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv969441



Internal ID18257982
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:121447025..121449501hg38UCSC Ensembl
Innerchr6:121768171..121770647hg19UCSC Ensembl
Innerchr6:121809870..121812346hg18UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg382477
hg192477
hg182477
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2422363, nssv2422360, nssv2422359, nssv2422357, nssv2422364, nssv2422362, nssv2422358, nssv2422361, nssv2422366, nssv2422365
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesGJA1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv969441
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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