A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5924462



Internal ID22699689
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:30619496..30625633hg38UCSC Ensembl
chr8:30477013..30483150hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg386138
hg196138
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17439900
Samples
Known GenesGTF2E2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5924462
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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