A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2295459



Internal ID17402834
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:122482969..122491232hg38UCSC Ensembl
Innerchr3:122201816..122210079hg19UCSC Ensembl
Innerchr3:123684506..123692769hg18UCSC Ensembl
Cytoband3q21.1
Allele length
AssemblyAllele length
hg388264
hg198264
hg188264
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv979870
Supporting Variants
SamplesHGDP00521
Known GenesKPNA1
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)nssv2295459
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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