A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15178920



Internal ID21317716
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:16408564..16408863hg38UCSC Ensembl
chr3:16450071..16450370hg19UCSC Ensembl
Cytoband3p24.3
Allele length
AssemblyAllele length
hg38300
hg19300
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3948595
Supporting Variants
SamplesHG002
Known GenesRFTN1
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15178920
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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