A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5968604



Internal ID22743539
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 StatusM
Merged Variants
Supporting Variantsnssv17394606
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)nsv5968604
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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