A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv970123



Internal ID18605347
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:52894055..52905719hg38UCSC Ensembl
Innerchr6:52758853..52770517hg19UCSC Ensembl
Innerchr6:52866812..52878476hg18UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg3811665
hg1911665
hg1811665
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2410221, nssv2410217, nssv2410218, nssv2410220, nssv2410223, nssv2410219, nssv2410215, nssv2410216, nssv2410224, nssv2410222
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesGSTA3
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv970123
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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