A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15201356



Internal ID21340170
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:5279668..5279668hg38UCSC Ensembl
chr5:5279781..5279781hg19UCSC Ensembl
Cytoband5p15.32
Allele length
AssemblyAllele length
hg38314
hg19314
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3934661
Supporting Variants
SamplesHG002
Known GenesADAMTS16
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15201356
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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