A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17443390



Internal ID22501260
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 StatusS
Merged Variantsnsv5961744
Supporting Variants
Samples
Known GenesCASC14, CASC15
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17443390
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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