A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16919055



Internal ID13468
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:148100363..148166849hg38UCSC Ensembl
chr2:148857932..148924418hg19UCSC Ensembl
Cytoband2q23.1
Allele length
AssemblyAllele length
hg3866487
hg1966487
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5436979
Supporting Variants
Samples
Known GenesMBD5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16919055
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