A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18077675



Internal ID20644715
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:140332196..140332639hg38UCSC Ensembl
chr2:141089765..141090208hg19UCSC Ensembl
Cytoband2q22.1
Allele length
AssemblyAllele length
hg38444
hg19444
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6344992
Supporting Variants
Samples
Known GenesLRP1B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18077675
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00086


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