A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17463375



Internal ID22521261
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:112069116..112071315hg38UCSC Ensembl
chr12:112506920..112509119hg19UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg382200
hg192200
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5860541
Supporting Variants
Samples
Known GenesNAA25
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17463375
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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