A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2303419



Internal ID17536294
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:160500268..160501560hg38UCSC Ensembl
Innerchr3:160218056..160219348hg19UCSC Ensembl
Innerchr3:161700750..161702042hg18UCSC Ensembl
Cytoband3q25.33
Allele length
AssemblyAllele length
hg381293
hg191293
hg181293
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv963372
Supporting Variants
SamplesHGDP01307
Known GenesKPNA4
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)nssv2303419
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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