A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2330403



Internal ID17486923
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:109339107..109347633hg38UCSC Ensembl
Innerchr4:110260263..110268789hg19UCSC Ensembl
Innerchr4:110479712..110488238hg18UCSC Ensembl
Cytoband4q25
Allele length
AssemblyAllele length
hg388527
hg198527
hg188527
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv964081
Supporting Variants
SamplesHGDP00998
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)nssv2330403
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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