A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5461491



Internal ID239440
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:117502649..117502822hg38UCSC Ensembl
chr6:117823812..117823985hg19UCSC Ensembl
Cytoband6q22.1
Allele length
AssemblyAllele length
hg38174
hg19174
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16988857
Samples
Known GenesDCBLD1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5461491
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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