A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5886499



Internal ID22661487
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:71021492..71024089hg38UCSC Ensembl
chr1:71487175..71489772hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg382598
hg192598
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17371370
Samples
Known GenesPTGER3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5886499
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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