A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv970926



Internal ID18259462
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:103347960..103349253hg38UCSC Ensembl
Innerchr7:102988407..102989700hg19UCSC Ensembl
Innerchr7:102775643..102776936hg18UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg381294
hg191294
hg181294
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2473934, nssv2473931, nssv2473936, nssv2473937, nssv2473933, nssv2473935, nssv2473938, nssv2473939, nssv2473932, nssv2473940
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesPSMC2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv970926
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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