A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2163702



Internal ID17798167
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:12022725..12025462hg38UCSC Ensembl
Innerchr2:12162851..12165588hg19UCSC Ensembl
Innerchr2:12080302..12083039hg18UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg382738
hg192738
hg182738
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv961383
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)nssv2163702
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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