A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17371450



Internal ID22597119
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:39183337..39183337hg38UCSC Ensembl
chr17:37339590..37339590hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg38155
hg19155
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5975650
Supporting Variants
Samples
Known GenesCACNB1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17371450
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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