A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2170192



Internal ID17455457
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:46758828..46762021hg38UCSC Ensembl
Innerchr2:46985967..46989160hg19UCSC Ensembl
Innerchr2:46839471..46842664hg18UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg383194
hg193194
hg183194
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv961404
Supporting Variants
SamplesHGDP00778
Known GenesSOCS5
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)nssv2170192
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