A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2167731



Internal ID17838563
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:31290259..31294636hg38UCSC Ensembl
Innerchr2:31513125..31517502hg19UCSC Ensembl
Innerchr2:31366629..31371006hg18UCSC Ensembl
Cytoband2p23.1
Allele length
AssemblyAllele length
hg384378
hg194378
hg184378
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv978990
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)nssv2167731
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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