A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2194247



Internal ID17836063
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:100425220..100426317hg38UCSC Ensembl
Innerchr2:101041682..101042779hg19UCSC Ensembl
Innerchr2:100408114..100409211hg18UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg381098
hg191098
hg181098
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv961460
Supporting Variants
SamplesHGDP00998
Known Genes
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)nssv2194247
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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