A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17044728



Internal ID97565
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:19470619..19473758hg38UCSC Ensembl
chr11:19492166..19495305hg19UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg383140
hg193140
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5511616
Supporting Variants
Samples
Known GenesNAV2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17044728
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000781


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