A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5468708



Internal ID246503
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:46227128..46228044hg38UCSC Ensembl
chr6:46194865..46195781hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg38917
hg19917
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16981764
Samples
Known GenesRCAN2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5468708
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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