A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5961744



Internal ID22736686
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:22141994..22141994hg38UCSC Ensembl
chr6:22142223..22142223hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg38181
hg19181
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17443390
Samples
Known GenesCASC14, CASC15
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5961744
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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