A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16974723



Internal ID50525
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:149048341..149048478hg38UCSC Ensembl
chr5:148427904..148428041hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg38138
hg19138
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5461075
Supporting Variants
Samples
Known GenesSH3TC2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16974723
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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