A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17354727



Internal ID22580396
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:25164761..25170621hg38UCSC Ensembl
chr12:25317695..25323555hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg385861
hg195861
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5911935
Supporting Variants
Samples
Known GenesCASC1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17354727
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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