A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16895769



Internal ID171336
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:215059159..215081882hg38UCSC Ensembl
chr1:215232502..215255225hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3822724
hg1922724
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5452931
Supporting Variants
Samples
Known GenesKCNK2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16895769
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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