A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6244000



Internal ID22048610
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 StatusM
Merged Variants
Supporting Variantsnssv17856701
Samples
Known GenesNSUN7
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6244000
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