A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv968235



Internal ID18603463
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:115770659..115771453hg38UCSC Ensembl
Innerchr5:115106356..115107150hg19UCSC Ensembl
Innerchr5:115134255..115135049hg18UCSC Ensembl
Cytoband5q22.3
Allele length
AssemblyAllele length
hg38795
hg19795
hg18795
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2374014, nssv2374015, nssv2374019, nssv2374013, nssv2374017, nssv2374020, nssv2374021, nssv2374012, nssv2374018, nssv2374016
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)nsv968235
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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