A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17363864



Internal ID22589533
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:65911234..65914934hg38UCSC Ensembl
chr12:66305014..66308714hg19UCSC Ensembl
Cytoband12q14.3
Allele length
AssemblyAllele length
hg383701
hg193701
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5942149
Supporting Variants
Samples
Known GenesHMGA2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17363864
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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