A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2191648



Internal ID17435548
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:101273139..101276176hg38UCSC Ensembl
Innerchr2:101889601..101892638hg19UCSC Ensembl
Innerchr2:101256033..101259070hg18UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg383038
hg193038
hg183038
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv961845
Supporting Variants
SamplesHGDP00665
Known GenesRNF149
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)nssv2191648
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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