A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv968955



Internal ID18604183
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:78708408..78709001hg38UCSC Ensembl
Innerchr5:78004231..78004824hg19UCSC Ensembl
Innerchr5:78039987..78040580hg18UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg38594
hg19594
hg18594
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2365502, nssv2365506, nssv2365501, nssv2365500, nssv2365509, nssv2365505, nssv2365507, nssv2365508, nssv2365503, nssv2365504
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)nsv968955
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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