A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17723247



Internal ID146913
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:38269810..38604627hg38UCSC Ensembl
chr19:38760450..39095267hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38334818
hg19334818
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5556604
Supporting Variants
Samples
Known GenesC19orf33, CATSPERG, FAM98C, GGN, KCNK6, MAP4K1, PSMD8, RASGRP4, RYR1, SPINT2, SPRED3, YIF1B
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17723247
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000624


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