A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2363648



Internal ID17404245
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:73502535..73505916hg38UCSC Ensembl
Innerchr5:72798360..72801741hg19UCSC Ensembl
Innerchr5:72834116..72837497hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg383382
hg193382
hg183382
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv968944
Supporting Variants
SamplesHGDP00521
Known GenesBTF3
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)nssv2363648
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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