A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15189010



Internal ID21327851
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:57661940..57661940hg38UCSC Ensembl
chr20:56236996..56236996hg19UCSC Ensembl
Cytoband20q13.31
Allele length
AssemblyAllele length
hg3870
hg1970
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3948154
Supporting Variants
SamplesHG002
Known GenesPMEPA1
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15189010
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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