A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15789711



Internal ID19515077
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:194242227..196765830hg38UCSC Ensembl
chr2:195106951..197630554hg19UCSC Ensembl
Cytoband2q32.3
Allele length
AssemblyAllele length
hg382523604
hg192523604
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4342576
Supporting Variants
Samples
Known GenesCCDC150, DNAH7, GTF3C3, HECW2, LOC100130452, SLC39A10, STK17B
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)nssv15789711
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000046


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