A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2305143



Internal ID17440414
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:179258679..179260878hg38UCSC Ensembl
Innerchr3:178976467..178978666hg19UCSC Ensembl
Innerchr3:180459161..180461360hg18UCSC Ensembl
Cytoband3q26.32
Allele length
AssemblyAllele length
hg382200
hg192200
hg182200
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv967094
Supporting Variants
SamplesHGDP00665
Known GenesKCNMB3
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)nssv2305143
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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