A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15193542



Internal ID21332431
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:87492124..87492124hg38UCSC Ensembl
chr13:88144379..88144379hg19UCSC Ensembl
Cytoband13q31.2
Allele length
AssemblyAllele length
hg38204
hg19204
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3939049
Supporting Variants
SamplesHG002
Known GenesMIR4500HG
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15193542
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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