A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17995943



Internal ID20562983
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:105027142..105043804hg38UCSC Ensembl
chr12:105420920..105437582hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg3816663
hg1916663
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6464331
Supporting Variants
Samples
Known GenesALDH1L2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv17995943
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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