A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5563145



Internal ID336082
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:41488474..41630650hg38UCSC Ensembl
chr17:39644726..39786902hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg38142177
hg19142177
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17713188
Samples
Known GenesKRT13, KRT14, KRT15, KRT16, KRT17, KRT19, KRT36, KRT42P, KRT9, LINC00974, MIR6510
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5563145
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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