A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv968208



Internal ID18603436
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:72878661..72879161hg38UCSC Ensembl
Innerchr5:72174488..72174988hg19UCSC Ensembl
Innerchr5:72210244..72210744hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38501
hg19501
hg18501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2362831, nssv2362837, nssv2362834, nssv2362832, nssv2362833, nssv2362830, nssv2362835, nssv2362829, nssv2362828, nssv2362836
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesMIR4804, TNPO1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv968208
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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