A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2162611



Internal ID17733270
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:11350412..11353029hg38UCSC Ensembl
Innerchr2:11490538..11493155hg19UCSC Ensembl
Innerchr2:11407989..11410606hg18UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg382618
hg192618
hg182618
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv978979
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)nssv2162611
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