A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17425718



Internal ID22483588
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:185273750..185391482hg38UCSC Ensembl
chr3:184991538..185109270hg19UCSC Ensembl
Cytoband3q27.2
Allele length
AssemblyAllele length
hg38117733
hg19117733
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5902799
Supporting Variants
Samples
Known GenesMAP3K13
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17425718
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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