A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15955219



Internal ID19680473
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:99843935..100371087hg38UCSC Ensembl
chr12:100237713..100764865hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg38527153
hg19527153
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4225662
Supporting Variants
Samples
Known GenesACTR6, ANKS1B, DEPDC4, GOLGA2P5, MIR1827, SCYL2, SLC17A8, UHRF1BP1L
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)nssv15955219
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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