A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5940984



Internal ID22716400
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:75044187..75044503hg38UCSC Ensembl
chr17:73040282..73040598hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg38317
hg19317
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17371369
Samples
Known GenesATP5H
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5940984
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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