A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2210461



Internal ID17751704
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:163150291..163153842hg38UCSC Ensembl
Innerchr2:164006801..164010352hg19UCSC Ensembl
Innerchr2:163715047..163718598hg18UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg383552
hg193552
hg183552
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv979142
Supporting Variants
SamplesHGDP00521
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)nssv2210461
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer