A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6420089



Internal ID21077642
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:74140051..74483620hg38UCSC Ensembl
chr8:75052286..75395855hg19UCSC Ensembl
Cytoband8q21.11
Allele length
AssemblyAllele length
hg38343570
hg19343570
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18222330
Samples
Known GenesGDAP1, JPH1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6420089
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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