A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2191941



Internal ID17766167
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:97821013..97829866hg38UCSC Ensembl
Innerchr2:98437476..98446329hg19UCSC Ensembl
Innerchr2:97803908..97812761hg18UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg388854
hg198854
hg188854
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv961841
Supporting Variants
SamplesHGDP00542
Known GenesTMEM131
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)nssv2191941
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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