A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18055632



Internal ID20622672
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:196533447..196535217hg38UCSC Ensembl
chr1:196502577..196504347hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg381771
hg191771
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6318328
Supporting Variants
Samples
Known GenesKCNT2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18055632
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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