A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15968200



Internal ID19693454
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:219191378..219316778hg38UCSC Ensembl
chr2:220056100..220181500hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg38125401
hg19125401
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4087152
Supporting Variants
Samples
Known GenesABCB6, ANKZF1, ATG9A, DNAJB2, GLB1L, MIR153-1, PTPRN, STK16, TUBA4A, TUBA4B, ZFAND2B
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)nssv15968200
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000047


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