A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5970571



Internal ID22745506
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:50142503..50623829hg38UCSC Ensembl
chr19:50645760..51127086hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg38481327
hg19481327
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17407123
Samples
Known GenesASPDH, EMC10, FAM71E1, IZUMO2, JOSD2, KCNC3, LRRC4B, MYBPC2, MYH14, NAPSA, NAPSB, NR1H2, POLD1, SNAR-F, SPIB, SYT3
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5970571
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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