A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17418382



Internal ID22476252
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:99318025..99320346hg38UCSC Ensembl
chr4:100239182..100241503hg19UCSC Ensembl
Cytoband4q23
Allele length
AssemblyAllele length
hg382322
hg192322
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5894668
Supporting Variants
Samples
Known GenesADH1B
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17418382
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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