A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2392695



Internal ID17775622
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:181465154..181478259hg38UCSC Ensembl
Innerchr5:180892155..180905260hg19UCSC Ensembl
Innerchr5:180824761..180837969hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3813106
hg1913106
hg1813209
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv980776
Supporting Variants
SamplesHGDP00542
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)nssv2392695
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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