A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16983794



Internal ID56571
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:72740487..72741632hg38UCSC Ensembl
chr6:73450210..73451355hg19UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg381146
hg191146
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5468856
Supporting Variants
Samples
Known GenesKCNQ5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16983794
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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