A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2210340



Internal ID17784476
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:161048856..161049356hg38UCSC Ensembl
Innerchr2:161905367..161905867hg19UCSC Ensembl
Innerchr2:161613613..161614113hg18UCSC Ensembl
Cytoband2q24.2
Allele length
AssemblyAllele length
hg38501
hg19501
hg18501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv963739
Supporting Variants
SamplesHGDP00665
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)nssv2210340
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