A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17688933



Internal ID112599
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:70433978..70434701hg38UCSC Ensembl
chr12:70827758..70828481hg19UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg38724
hg19724
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6143670
Supporting Variants
Samples
Known GenesKCNMB4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17688933
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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