A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5923848



Internal ID22699075
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:11700461..11704242hg38UCSC Ensembl
chr8:11557970..11561751hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg383782
hg193782
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17433578
Samples
Known GenesGATA4
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5923848
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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