A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv964930



Internal ID18600165
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:118966279..118982248hg38UCSC Ensembl
Innerchr5:118301974..118317943hg19UCSC Ensembl
Innerchr5:118329873..118345842hg18UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg3815970
hg1915970
hg1815970
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2374445, nssv2374437, nssv2374441, nssv2374440, nssv2374438, nssv2374439, nssv2374443, nssv2374442, nssv2374444, nssv2374446
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesDTWD2, MIR1244-1, MIR1244-2, MIR1244-3
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv964930
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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