A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2331652



Internal ID17835875
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:112169629..112172511hg38UCSC Ensembl
Innerchr4:113090785..113093667hg19UCSC Ensembl
Innerchr4:113310234..113313116hg18UCSC Ensembl
Cytoband4q25
Allele length
AssemblyAllele length
hg382883
hg192883
hg182883
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv980245
Supporting Variants
SamplesHGDP00998
Known GenesC4orf32
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)nssv2331652
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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