A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5467488



Internal ID245300
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:47640560..47643213hg38UCSC Ensembl
chr6:47608296..47610949hg19UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg382654
hg192654
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16981498
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5467488
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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