A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15198483



Internal ID21337279
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3941531
Supporting Variants
SamplesHG002
Known GenesMYOM2
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15198483
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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