A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17031669



Internal ID88825
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:37821228..37821279hg38UCSC Ensembl
chr10:38110156..38110207hg19UCSC Ensembl
Cytoband10p11.1
Allele length
AssemblyAllele length
hg38243
hg19243
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5409215
Supporting Variants
Samples
Known GenesZNF248
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17031669
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.023416


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