A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4573205



Internal ID19956394
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:32091994..32504941hg38UCSC Ensembl
chr3:32133486..32546433hg19UCSC Ensembl
Cytoband3p22.3
Allele length
AssemblyAllele length
hg38412948
hg19412948
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15790064
Samples
Known GenesCMTM6, CMTM7, CMTM8, GPD1L
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)nsv4573205
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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