A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17360612



Internal ID22586281
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:223748661..223748711hg38UCSC Ensembl
chr1:223936363..223936413hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5883920
Supporting Variants
Samples
Known GenesCAPN2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17360612
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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