A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17998817



Internal ID20565857
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:123714937..123717106hg38UCSC Ensembl
chr12:124199484..124201653hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg382170
hg192170
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6491451
Supporting Variants
Samples
Known GenesATP6V0A2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv17998817
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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