A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5556983



Internal ID330101
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 StatusM
Merged Variants
Supporting Variantsnssv17008070
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)nsv5556983
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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