A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18055597



Internal ID20622637
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:196353801..196355000hg38UCSC Ensembl
chr1:196322931..196324130hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg381200
hg191200
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6326885
Supporting Variants
Samples
Known GenesKCNT2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18055597
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00023


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