A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2212156



Internal ID17408742
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:174719911..174721450hg38UCSC Ensembl
Innerchr2:175584639..175586178hg19UCSC Ensembl
Innerchr2:175292885..175294424hg18UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg381540
hg191540
hg181540
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv961910
Supporting Variants
SamplesHGDP00521
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)nssv2212156
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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