A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2191546



Internal ID17485029
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:101002623..101006193hg38UCSC Ensembl
Innerchr2:101619085..101622655hg19UCSC Ensembl
Innerchr2:100985517..100989087hg18UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg383571
hg193571
hg183571
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv961844
Supporting Variants
SamplesHGDP00998
Known GenesRPL31
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)nssv2191546
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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