A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2199224



Internal ID17802919
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:113187077..113187712hg38UCSC Ensembl
Innerchr2:113944654..113945289hg19UCSC Ensembl
Innerchr2:113661125..113661760hg18UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg38636
hg19636
hg18636
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv961871
Supporting Variants
SamplesHGDP00778
Known GenesPSD4
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)nssv2199224
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