A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv964934



Internal ID18600169
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:125265170..125266351hg38UCSC Ensembl
Innerchr5:124600863..124602044hg19UCSC Ensembl
Innerchr5:124628762..124629943hg18UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg381182
hg191182
hg181182
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2376163, nssv2376162, nssv2376160, nssv2376156, nssv2376154, nssv2376159, nssv2376161, nssv2376155, nssv2376157, nssv2376158
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv964934
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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