A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2164152



Internal ID17848852
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:15396980..15398936hg38UCSC Ensembl
Innerchr2:15537104..15539060hg19UCSC Ensembl
Innerchr2:15454555..15456511hg18UCSC Ensembl
Cytoband2p24.3
Allele length
AssemblyAllele length
hg381957
hg191957
hg181957
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv961384
Supporting Variants
SamplesHGDP01029
Known GenesNBAS
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)nssv2164152
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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