A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5665937



Internal ID21614242
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:130138213..131531319hg38UCSC Ensembl
chr2:130895786..132288892hg19UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg381393107
hg191393107
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17108404
SamplesNA12878
Known GenesAMER3, ARHGEF4, CCDC115, CCDC74A, CCDC74B, CFC1, CFC1B, CYP4F30P, CYP4F62P, FAM168B, FAR2P2, GPR148, IMP4, LINC01120, LOC150776, LOC401010, LOC440910, LOC646743, MED15P9, MIR4784, MZT2A, MZT2B, PLEKHB2, POTEE, POTEI, POTEJ, PTPN18, RNU6-81P, SMPD4, TISP43, TUBA3D, TUBA3E, WTH3DI
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5665937
Frequency
Sample Size35
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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