A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2355751



Internal ID17865044
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:51274276..51276522hg38UCSC Ensembl
Innerchr5:50570110..50572356hg19UCSC Ensembl
Innerchr5:50605867..50608113hg18UCSC Ensembl
Cytoband5q11.1
Allele length
AssemblyAllele length
hg382247
hg192247
hg182247
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv968911
Supporting Variants
SamplesHGDP01284
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)nssv2355751
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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