A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18188063



Internal ID20755103
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:102798701..102800900hg38UCSC Ensembl
chr13:103451051..103453250hg19UCSC Ensembl
Cytoband13q33.1
Allele length
AssemblyAllele length
hg382200
hg192200
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6480363
Supporting Variants
Samples
Known GenesBIVM, KDELC1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18188063
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00018


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