A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv965802



Internal ID18254346
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:57920481..57923797hg38UCSC Ensembl
Innerchr6:58246759..58250075hg19UCSC Ensembl
Innerchr6:58354718..58358034hg18UCSC Ensembl
Cytoband6p11.2
Allele length
AssemblyAllele length
hg383317
hg193317
hg183317
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2706365, nssv2706364, nssv2706371, nssv2706363, nssv2706366, nssv2706370, nssv2706369, nssv2706367, nssv2706368, nssv2706362
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesGUSBP4
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv965802
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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