A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6379372



Internal ID21036925
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:128809601..128810200hg38UCSC Ensembl
chr4:129730756..129731355hg19UCSC Ensembl
Cytoband4q28.2
Allele length
AssemblyAllele length
hg38600
hg19600
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18110546
Samples
Known GenesJADE1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6379372
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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