A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17394606



Internal ID22452476
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:49436021..59087697hg38UCSC Ensembl
chr2:49663159..59314832hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg389651677
hg199651674
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5968604
Supporting Variants
Samples
Known GenesACYP2, ASB3, C2orf73, CCDC104, CCDC85A, CCDC88A, CHAC2, CLHC1, EFEMP1, EML6, ERLEC1, FANCL, GPR75, GPR75-ASB3, LINC01122, MIR216A, MIR216B, MIR217, MIR3682, MIR4426, MTIF2, NRXN1, PNPT1, PRORSD1P, PSME4, RPL23AP32, RPS27A, RTN4, SMEK2, SPTBN1, TSPYL6, VRK2
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17394606
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