A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17451400



Internal ID22509272
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:111808825..111811624hg38UCSC Ensembl
chr12:112246629..112249428hg19UCSC Ensembl
Cytoband12q24.12
Allele length
AssemblyAllele length
hg382800
hg192800
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5856349
Supporting Variants
Samples
Known GenesALDH2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17451400
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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