A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15201013



Internal ID21339816
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:53137136..53137136hg38UCSC Ensembl
chr5:52432966..52432966hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3942406
Supporting Variants
SamplesHG002
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15201013
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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