A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15948313



Internal ID19673567
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:18111878..18914523hg38UCSC Ensembl
chr11:18133425..18936070hg19UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg38802646
hg19802646
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4208761
Supporting Variants
Samples
Known GenesGTF2H1, HPS5, IGSF22, LDHA, LDHAL6A, LDHC, LOC494141, MRGPRX3, MRGPRX4, PTPN5, SAA1, SAA2, SAA2-SAA4, SAA3P, SAA4, SPTY2D1, SPTY2D1-AS1, TMEM86A, TSG101, UEVLD
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)nssv15948313
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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