A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17008070



Internal ID73002
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:1572428..3114153hg38UCSC Ensembl
chr8:1520594..2971675hg19UCSC Ensembl
Cytoband8p23.2
Allele length
AssemblyAllele length
hg381541726
hg191451082
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5556983
Supporting Variants
Samples
Known GenesARHGEF10, CLN8, CSMD1, DLGAP2, KBTBD11, LOC100507435, MIR596, MIR7160, MYOM2
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17008070
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000156


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