A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2221243



Internal ID17885974
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:216174492..216177379hg38UCSC Ensembl
Innerchr2:217039215..217042102hg19UCSC Ensembl
Innerchr2:216747460..216750347hg18UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg382888
hg192888
hg182888
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv979173
Supporting Variants
SamplesHGDP01307
Known GenesXRCC5
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)nssv2221243
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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