A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5469132



Internal ID246923
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:151433098..151437058hg38UCSC Ensembl
chr6:151754233..151758193hg19UCSC Ensembl
Cytoband6q25.1
Allele length
AssemblyAllele length
hg383961
hg193961
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16989354
Samples
Known GenesRMND1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5469132
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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