A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17006583



Internal ID72005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:4194473..4277714hg38UCSC Ensembl
chr8:4051995..4135236hg19UCSC Ensembl
Cytoband8p23.2
Allele length
AssemblyAllele length
hg3883242
hg1983242
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5492906
Supporting Variants
Samples
Known GenesCSMD1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17006583
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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