A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2366617



Internal ID17532819
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:76240218..76242354hg38UCSC Ensembl
Innerchr5:75536043..75538179hg19UCSC Ensembl
Innerchr5:75571799..75573935hg18UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg382137
hg192137
hg182137
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv964896
Supporting Variants
SamplesHGDP01307
Known GenesSV2C
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)nssv2366617
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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