A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18084575



Internal ID20651615
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:241160952..241161394hg38UCSC Ensembl
chr2:242100367..242100809hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38443
hg19443
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6336268
Supporting Variants
Samples
Known GenesPPP1R7
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18084575
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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