A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2326329



Internal ID17800089
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:80161213..80173470hg38UCSC Ensembl
Innerchr4:81082367..81094624hg19UCSC Ensembl
Innerchr4:81301391..81313648hg18UCSC Ensembl
Cytoband4q21.21
Allele length
AssemblyAllele length
hg3812258
hg1912258
hg1812258
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv964069
Supporting Variants
SamplesHGDP00778
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)nssv2326329
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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