A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5427912



Internal ID206799
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:81418940..81419332hg38UCSC Ensembl
chr1:81884625..81885017hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38393
hg19393
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16905451
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5427912
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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