A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16291113



Internal ID20500331
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:57661917..57661917hg38UCSC Ensembl
chr20:56236973..56236973hg19UCSC Ensembl
Cytoband20q13.31
Allele length
AssemblyAllele length
hg3870
hg1970
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4755320
Supporting Variants
Samples
Known GenesPMEPA1
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nssv16291113
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer