A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv969379



Internal ID18604606
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:31353476..31357559hg38UCSC Ensembl
Innerchr6:31321253..31325336hg19UCSC Ensembl
Innerchr6:31429232..31433315hg18UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg384084
hg194084
hg184084
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2403613, nssv2403617, nssv2403620, nssv2403619, nssv2403622, nssv2403614, nssv2403615, nssv2403616, nssv2403621, nssv2403618
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesHLA-B, MIR6891
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv969379
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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