A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18000334



Internal ID20567374
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:39506211..39629581hg38UCSC Ensembl
chr12:39900013..40023383hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg38123371
hg19123371
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6459533
Supporting Variants
Samples
Known GenesABCD2, C12orf40
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18000334
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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