A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2215313



Internal ID17821260
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:186260530..186261652hg38UCSC Ensembl
Innerchr2:187125257..187126379hg19UCSC Ensembl
Innerchr2:186833502..186834624hg18UCSC Ensembl
Cytoband2q32.1
Allele length
AssemblyAllele length
hg381123
hg191123
hg181123
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv979156
Supporting Variants
SamplesHGDP00927
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)nssv2215313
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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