A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17997232



Internal ID20564272
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:118122036..118126840hg38UCSC Ensembl
chr12:118559841..118564645hg19UCSC Ensembl
Cytoband12q24.23
Allele length
AssemblyAllele length
hg384805
hg194805
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6488080
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv17997232
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00036


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer