A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2374018



Internal ID17771912
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 StatusS
Merged Variantsnsv968235
Supporting Variants
SamplesHGDP00542
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Pab-Ppy-Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2374018
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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