A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16914036



Internal ID10114
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:70066323..70074327hg38UCSC Ensembl
chr2:70293455..70301459hg19UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg388005
hg198005
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5447765
Supporting Variants
Samples
Known GenesPCBP1-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16914036
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer