A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15204990



Internal ID21343792
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:124602188..124602188hg38UCSC Ensembl
chr8:125614429..125614429hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3949825
Supporting Variants
SamplesHG002
Known GenesMTSS1
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15204990
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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