A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv981190



Internal ID18616389
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:138822936..138824713hg38UCSC Ensembl
Innerchr6:139144073..139145850hg19UCSC Ensembl
Innerchr6:139185766..139187543hg18UCSC Ensembl
Cytoband6q24.1
Allele length
AssemblyAllele length
hg381778
hg191778
hg181778
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2426220, nssv2426218, nssv2426217, nssv2426219, nssv2426216, nssv2426215, nssv2426213, nssv2426222, nssv2426221, nssv2426214
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesECT2L
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv981190
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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