A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2356320



Internal ID17866180
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:55551690..55555185hg38UCSC Ensembl
Innerchr5:54847518..54851013hg19UCSC Ensembl
Innerchr5:54883275..54886770hg18UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg383496
hg193496
hg183496
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv964854
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)nssv2356320
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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