A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2168355



Internal ID17797989
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:31589544..31645776hg38UCSC Ensembl
Innerchr2:31814613..31870845hg19UCSC Ensembl
Innerchr2:31668117..31724349hg18UCSC Ensembl
Cytoband2p23.1
Allele length
AssemblyAllele length
hg3856233
hg1956233
hg1856233
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv961024
Supporting Variants
SamplesHGDP00778
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)nssv2168355
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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