A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18005932



Internal ID20572972
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:96943321..96943956hg38UCSC Ensembl
chr12:97337099..97337734hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg38636
hg19636
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6456190
Supporting Variants
Samples
Known GenesNEDD1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18005932
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00011


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