A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4345524



Internal ID19841565
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:121605570..127894725hg38UCSC Ensembl
chr5:120941265..127230417hg19UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg386289156
hg196289153
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15790611
Samples
Known GenesALDH7A1, C5orf48, C5orf63, CEP120, CSNK1G3, CTXN3, FTMT, GRAMD3, LMNB1, LOC100505841, LOC101927488, LOC102546228, LOX, MARCH3, MEGF10, MGC32805, PHAX, PPIC, PRDM6, PRRC1, SNCAIP, SNX2, SNX24, SRFBP1, ZNF474, ZNF608
MethodSequencing
AnalysisSV calls were generated using multi-algorithm consensus pipeline involving raw evidence assessment, filtering, clustering, genotyping, alternative allele structure resolution, and gene annotation. These methods are described in detail in the gnomAD-SV preprint [Collins*, Brand*, et al., bioRxiv (2019)|https://www.biorxiv.org/content/10.1101/578674v1], and are largely based on methods developed in [Werling et al., Nat. Genet. (2018)|https://www.ncbi.nlm.nih.gov/pubmed/29700473].
Platform
Commentscomplex variant
ReferencegnomAD_Structural_Variants
Pubmed ID12345678
Accession Number(s)nsv4345524
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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