A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6420525



Internal ID21078078
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:53692301..53817800hg38UCSC Ensembl
chr8:54604861..54730360hg19UCSC Ensembl
Cytoband8q11.23
Allele length
AssemblyAllele length
hg38125500
hg19125500
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18231280
Samples
Known GenesATP6V1H
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6420525
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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