A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5472129



Internal ID249846
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:14817164..14818198hg38UCSC Ensembl
chr6:14817395..14818429hg19UCSC Ensembl
Cytoband6p23
Allele length
AssemblyAllele length
hg381035
hg191035
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16979161
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5472129
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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