A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16920762



Internal ID14621
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:141678647..141678712hg38UCSC Ensembl
chr2:142436216..142436281hg19UCSC Ensembl
Cytoband2q22.2
Allele length
AssemblyAllele length
hg3866
hg1966
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5439974
Supporting Variants
Samples
Known GenesLRP1B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16920762
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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