A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2190061



Internal ID17754300
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:97671545..97673138hg38UCSC Ensembl
Innerchr2:98288008..98289601hg19UCSC Ensembl
Innerchr2:97654440..97656033hg18UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg381594
hg191594
hg181594
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv963670
Supporting Variants
SamplesHGDP00521
Known GenesLINC01125
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)nssv2190061
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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