A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2221692



Internal ID17732938
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:218952865..218954973hg38UCSC Ensembl
Innerchr2:219817587..219819695hg19UCSC Ensembl
Innerchr2:219525831..219527939hg18UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg382109
hg192109
hg182109
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv979175
Supporting Variants
SamplesHGDP00456
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)nssv2221692
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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