A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17996881



Internal ID20563921
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:109794479..109885546hg38UCSC Ensembl
chr12:110232284..110323351hg19UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg3891068
hg1991068
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6476107
Supporting Variants
Samples
Known GenesGLTP, MIR4497, TRPV4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv17996881
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