A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18001959



Internal ID20568999
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:57443536..57446188hg38UCSC Ensembl
chr12:57837319..57839971hg19UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg382653
hg192653
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6456206
Supporting Variants
Samples
Known GenesINHBC
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18001959
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