A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2351705



Internal ID17539876
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:32354324..32355943hg38UCSC Ensembl
Innerchr5:32354430..32356049hg19UCSC Ensembl
Innerchr5:32390187..32391806hg18UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg381620
hg191620
hg181620
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv964831
Supporting Variants
SamplesHGDP01307
Known GenesZFR
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)nssv2351705
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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