A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18060497



Internal ID20627537
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:42752500..42753004hg38UCSC Ensembl
chr1:43218171..43218675hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg38505
hg19505
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6319502
Supporting Variants
Samples
Known GenesLEPRE1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18060497
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