A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17719926



Internal ID143592
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:79647021..80153228hg38UCSC Ensembl
chr18:77407021..77911111hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38506208
hg19504091
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5526102
Supporting Variants
Samples
Known GenesADNP2, CTDP1, HSBP1L1, KCNG2, PARD6G-AS1, PQLC1, RBFA, RBFADN, TXNL4A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17719926
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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