A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16943487



Internal ID29640
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:174869451..174869635hg38UCSC Ensembl
chr3:174587241..174587425hg19UCSC Ensembl
Cytoband3q26.31
Allele length
AssemblyAllele length
hg38185
hg19185
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5442396
Supporting Variants
Samples
Known GenesNAALADL2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16943487
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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