A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5905971



Internal ID22681164
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:119275179..119275374hg38UCSC Ensembl
chr6:119596344..119596539hg19UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg38196
hg19196
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17422472
Samples
Known GenesMAN1A1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5905971
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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