A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17463579



Internal ID22521465
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:122224760..122227462hg38UCSC Ensembl
chr12:122709307..122712009hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg382703
hg192703
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5850615
Supporting Variants
Samples
Known GenesDIABLO, LOC101593348
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17463579
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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