A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17856701



Internal ID22040344
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:40762203..40762203hg38UCSC Ensembl
chr4:40764220..40764220hg19UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg38169
hg19169
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6244000
Supporting Variants
Samples
Known GenesNSUN7
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17856701
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