A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17015392



Internal ID77917
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:125348254..125348254hg38UCSC Ensembl
chr8:126360496..126360496hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg381
hg191
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5563026
Supporting Variants
Samples
Known GenesNSMCE2
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17015392
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000937


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