A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv964892



Internal ID18600128
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:71407284..71450169hg38UCSC Ensembl
Innerchr5:70703111..70745996hg19UCSC Ensembl
Innerchr5:70738867..70781752hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3842886
hg1942886
hg1842886
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2363511, nssv2363507, nssv2363515, nssv2363508, nssv2363509, nssv2363514, nssv2363506, nssv2363512, nssv2363513, nssv2363510
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)nsv964892
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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