A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17518785



Internal ID21843144
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:210967063..210967149hg38UCSC Ensembl
chr1:211140405..211140491hg19UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg3887
hg1987
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5982310
Supporting Variants
Samples
Known GenesKCNH1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17518785
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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