A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17462421



Internal ID22520306
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:76692520..76694919hg38UCSC Ensembl
chr12:77086300..77088699hg19UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg382400
hg192400
Variant TypeOTHER copy number variation
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5867140
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17462421
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