A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17463984



Internal ID22521870
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:122289145..122290344hg38UCSC Ensembl
chr12:122773692..122774891hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg381200
hg191200
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5864286
Supporting Variants
Samples
Known GenesCLIP1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17463984
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