A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2201521



Internal ID17727978
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:130011277..130038582hg38UCSC Ensembl
Innerchr2:130768850..130796155hg19UCSC Ensembl
Innerchr2:130485320..130512625hg18UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg3827306
hg1927306
hg1827306
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv961880
Supporting Variants
SamplesHGDP00456
Known GenesFAR2P1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2201521
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