A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17695586



Internal ID119252
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:113745020..113799020hg38UCSC Ensembl
chr13:114447993..114501993hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg3854001
hg1954001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6144075
Supporting Variants
Samples
Known GenesLINC00552, TMEM255B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17695586
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000625


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