A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2192008



Internal ID17475446
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:104977941..104980336hg38UCSC Ensembl
Innerchr2:105594399..105596794hg19UCSC Ensembl
Innerchr2:104960831..104963226hg18UCSC Ensembl
Cytoband2q12.1
Allele length
AssemblyAllele length
hg382396
hg192396
hg182396
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv961846
Supporting Variants
SamplesHGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2192008
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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