A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5540736



Internal ID315451
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:36485442..36490644hg38UCSC Ensembl
chr21:37857740..37862942hg19UCSC Ensembl
Cytoband21q22.13
Allele length
AssemblyAllele length
hg385203
hg195203
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17726784
Samples
Known GenesCLDN14
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5540736
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