A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2166452



Internal ID17732324
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:23871671..23875598hg38UCSC Ensembl
Innerchr2:24094541..24098468hg19UCSC Ensembl
Innerchr2:23948045..23951972hg18UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg383928
hg193928
hg183928
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv961018
Supporting Variants
SamplesHGDP00456
Known GenesATAD2B
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)nssv2166452
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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