A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2326232



Internal ID17799915
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:80079616..80081356hg38UCSC Ensembl
Innerchr4:81000770..81002510hg19UCSC Ensembl
Innerchr4:81219794..81221534hg18UCSC Ensembl
Cytoband4q21.21
Allele length
AssemblyAllele length
hg381741
hg191741
hg181741
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv964068
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)nssv2326232
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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