A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5903680



Internal ID22678849
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:87264580..87307227hg38UCSC Ensembl
chr4:88185732..88228379hg19UCSC Ensembl
Cytoband4q22.1
Allele length
AssemblyAllele length
hg3842648
hg1942648
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17428617
Samples
Known GenesHSD17B13, MIR5705
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5903680
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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