A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17451295



Internal ID22509167
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:71646581..71649303hg38UCSC Ensembl
chr12:72040361..72043083hg19UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg382723
hg192723
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5858567
Supporting Variants
Samples
Known GenesZFC3H1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17451295
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