A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2324820



Internal ID17771781
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:72796068..72809900hg38UCSC Ensembl
Innerchr4:73661785..73675617hg19UCSC Ensembl
Innerchr4:73880649..73894481hg18UCSC Ensembl
Cytoband4q13.3
Allele length
AssemblyAllele length
hg3813833
hg1913833
hg1813833
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv966283
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)nssv2324820
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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