A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15189018



Internal ID21327860
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:58830532..58830532hg38UCSC Ensembl
chr20:57405587..57405587hg19UCSC Ensembl
Cytoband20q13.32
Allele length
AssemblyAllele length
hg38586
hg19586
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3946770
Supporting Variants
SamplesHG002
Known GenesGNAS-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15189018
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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