A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15189859



Internal ID21328709
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:124922700..124922700hg38UCSC Ensembl
chr3:124641547..124641547hg19UCSC Ensembl
Cytoband3q21.2
Allele length
AssemblyAllele length
hg38135
hg19135
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3952032
Supporting Variants
SamplesHG002
Known GenesMUC13
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15189859
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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