A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5919004



Internal ID22694226
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:42019323..42019392hg38UCSC Ensembl
chr8:41876841..41876910hg19UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg3870
hg1970
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17446685
Samples
Known GenesKAT6A
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5919004
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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