A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15829644



Internal ID19555044
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:28809179..29040179hg38UCSC Ensembl
chr16:28820500..29051500hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38231001
hg19231001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4245594
Supporting Variants
Samples
Known GenesATP2A1, ATXN2L, CD19, LAT, LOC100289092, MIR4517, MIR4721, NFATC2IP, RABEP2, SH2B1, SPNS1, TUFM
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
Comments
ReferencegnomAD_Structural_Variants
Pubmed ID12345678
Accession Number(s)nssv15829644
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000241


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