A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2390210



Internal ID17530691
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:179690223..179696616hg38UCSC Ensembl
Innerchr5:179117224..179123617hg19UCSC Ensembl
Innerchr5:179049830..179056223hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg386394
hg196394
hg186394
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv969028
Supporting Variants
SamplesHGDP01307
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)nssv2390210
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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