A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv970192



Internal ID18258730
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:167309461..167310940hg38UCSC Ensembl
Innerchr6:167722949..167724428hg19UCSC Ensembl
Innerchr6:167642939..167644418hg18UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg381480
hg191480
hg181480
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2432702, nssv2432699, nssv2432701, nssv2432700, nssv2432703, nssv2432696, nssv2432697, nssv2432695, nssv2432694, nssv2432698
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesUNC93A
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv970192
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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