A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17844106



Internal ID22027749
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:70395155..70395155hg38UCSC Ensembl
chr12:70788935..70788935hg19UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg38247
hg19247
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6241184
Supporting Variants
Samples
Known GenesKCNMB4
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17844106
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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