A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3941531



Internal ID21361601
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:2055087..2055158hg38UCSC Ensembl
chr8:2003205..2003276hg19UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg3872
hg1972
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15198483
SamplesHG002
Known GenesMYOM2
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nsv3941531
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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