A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17453969



Internal ID22511844
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:124438035..124440417hg38UCSC Ensembl
chr12:124922581..124924963hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg382383
hg192383
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5865968
Supporting Variants
Samples
Known GenesNCOR2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17453969
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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