A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5471259



Internal ID249000
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:52201474..52201665hg38UCSC Ensembl
chr6:52066272..52066463hg19UCSC Ensembl
Cytoband6p12.2
Allele length
AssemblyAllele length
hg38192
hg19192
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16981846
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5471259
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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