A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5556604



Internal ID329738
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 StatusM
Merged Variants
Supporting Variantsnssv17723247
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)nsv5556604
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