A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5468401



Internal ID246199
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:15284000..15292000hg38UCSC Ensembl
chr6:15284231..15292231hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg388001
hg198001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16979708
Samples
Known GenesJARID2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5468401
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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