A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5931204



Internal ID22706484
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:75042897..75043235hg38UCSC Ensembl
chr17:73038992..73039330hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg38339
hg19339
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17377945
Samples
Known GenesATP5H
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5931204
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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