A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17439642



Internal ID22497512
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:135784904..135784960hg38UCSC Ensembl
chr9:138676750..138676806hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5918202
Supporting Variants
Samples
Known GenesKCNT1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17439642
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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