A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17010738



Internal ID74787
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:40634146..40634197hg38UCSC Ensembl
chr8:40491665..40491716hg19UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5403900
Supporting Variants
Samples
Known GenesZMAT4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17010738
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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