A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6103268



Internal ID22012501
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:45080087..46509008hg38UCSC Ensembl
chr19:45583345..47012265hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg381428922
hg191428921
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17630808
Samples
Known GenesBLOC1S3, C19orf83, CCDC61, CCDC8, CD3EAP, CKM, DKFZp434J0226, DMPK, DMWD, EML2, ERCC1, ERCC2, EXOC3L2, FBXO46, FOSB, FOXA3, GEMIN7, GIPR, GPR4, HIF3A, IGFL1, IGFL2, IGFL3, IGFL4, IRF2BP1, KLC3, LOC388553, MARK4, MIR330, MIR642A, MIR642B, MIR769, MYPOP, NANOS2, NKPD1, NOVA2, OPA3, PGLYRP1, PNMAL1, PNMAL2, PPM1N, PPP1R13L, PPP1R37, PPP5C, PPP5D1, QPCTL, RNU6-66P, RSPH6A, RTN2, SIX5, SNRPD2, SYMPK, TRAPPC6A, VASP
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6103268
Frequency
Sample Size405
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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