A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17998343



Internal ID20565383
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:22492656..22493199hg38UCSC Ensembl
chr12:22645590..22646133hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg38544
hg19544
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6466508
Supporting Variants
Samples
Known GenesC2CD5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv17998343
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00081


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