A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18057962



Internal ID20625002
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:215654453..215659151hg38UCSC Ensembl
chr1:215827795..215832493hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg384699
hg194699
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6327272
Supporting Variants
Samples
Known GenesUSH2A
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18057962
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