A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17997646



Internal ID20564686
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:15746359..15753569hg38UCSC Ensembl
chr12:15899293..15906503hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg387211
hg197211
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6474323
Supporting Variants
Samples
Known GenesEPS8
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv17997646
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.0013


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