A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6416241



Internal ID21073794
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:144344711..144391345hg38UCSC Ensembl
chr8:145568373..145616545hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3846635
hg1948173
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18165547
Samples
Known GenesADCK5, FBXL6, SLC52A2, TMEM249
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6416241
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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