A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv970122



Internal ID18605346
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:52765177..52815704hg38UCSC Ensembl
Innerchr6:52629975..52680502hg19UCSC Ensembl
Innerchr6:52737934..52788461hg18UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg3850528
hg1950528
hg1850528
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2409233, nssv2409236, nssv2409237, nssv2409232, nssv2409231, nssv2409229, nssv2409238, nssv2409235, nssv2409230, nssv2409234
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesGSTA1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv970122
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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