A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15204542



Internal ID21343345
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:3876683..3876683hg38UCSC Ensembl
chr9:3876683..3876683hg19UCSC Ensembl
Cytoband9p24.2
Allele length
AssemblyAllele length
hg38304
hg19304
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3946970
Supporting Variants
SamplesHG002
Known GenesGLIS3
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15204542
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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