A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17997198



Internal ID20564238
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:117507635..117508328hg38UCSC Ensembl
chr12:117945440..117946133hg19UCSC Ensembl
Cytoband12q24.22
Allele length
AssemblyAllele length
hg38694
hg19694
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6488095
Supporting Variants
Samples
Known GenesKSR2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv17997198
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00023


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