A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv964848



Internal ID18600084
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:43494937..43496977hg38UCSC Ensembl
Innerchr5:43495039..43497079hg19UCSC Ensembl
Innerchr5:43530796..43532836hg18UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg382041
hg192041
hg182041
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2355946, nssv2355948, nssv2355947, nssv2355950, nssv2355945, nssv2355944, nssv2355941, nssv2355942, nssv2355949, nssv2355943
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesC5orf34
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv964848
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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