A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5446613



Internal ID224935
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:215480988..215482777hg38UCSC Ensembl
chr1:215654331..215656120hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg381790
hg191790
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16896665
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5446613
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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