A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5984779



Internal ID21894122
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:83892259..83892337hg38UCSC Ensembl
chr1:84357942..84358020hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3879
hg1979
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17532305
Samples
Known GenesMIR548AP, TTLL7
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5984779
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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