A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5891522



Internal ID22666562
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:129106314..129106948hg38UCSC Ensembl
chr6:129427459..129428093hg19UCSC Ensembl
Cytoband6q22.33
Allele length
AssemblyAllele length
hg38635
hg19635
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17424123
Samples
Known GenesLAMA2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5891522
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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