A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5508449



Internal ID285137
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:19780106..19862106hg38UCSC Ensembl
chr13:20354246..20436246hg19UCSC Ensembl
Cytoband13q12.11
Allele length
AssemblyAllele length
hg3882001
hg1982001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17685901
Samples
Known GenesPSPC1, ZMYM5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5508449
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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