A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2164565



Internal ID17816478
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:17384734..17386718hg38UCSC Ensembl
Innerchr2:17566001..17567985hg19UCSC Ensembl
Innerchr2:17429482..17431466hg18UCSC Ensembl
Cytoband2p24.2
Allele length
AssemblyAllele length
hg381985
hg191985
hg181985
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv961385
Supporting Variants
SamplesHGDP00927
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)nssv2164565
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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