A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2217960



Internal ID17517842
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:202772965..202773675hg38UCSC Ensembl
Innerchr2:203637688..203638398hg19UCSC Ensembl
Innerchr2:203345933..203346643hg18UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg38711
hg19711
hg18711
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv963763
Supporting Variants
SamplesHGDP01284
Known GenesICA1L
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)nssv2217960
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