A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16947264



Internal ID32209
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:39553514..39553553hg38UCSC Ensembl
chr4:39555134..39555173hg19UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg381240
hg191240
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5559197
Supporting Variants
Samples
Known GenesMIR1273H, SMIM14, UGDH-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16947264
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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