A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17717078



Internal ID140744
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:31600527..31600604hg38UCSC Ensembl
chr18:29180490..29180567hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg3878
hg1978
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5527309
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17717078
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.003435


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