A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2223699



Internal ID17730048
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:231559135..231563717hg38UCSC Ensembl
Innerchr2:232423846..232428428hg19UCSC Ensembl
Innerchr2:232132090..232136672hg18UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg384583
hg194583
hg184583
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv961935
Supporting Variants
SamplesHGDP00456
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)nssv2223699
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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