A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15987048



Internal ID19712302
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:7130824..7339232hg38UCSC Ensembl
chrX:7048865..7257273hg19UCSC Ensembl
CytobandXp22.31
Allele length
AssemblyAllele length
hg38208409
hg19208409
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4035136
Supporting Variants
Samples
Known GenesHDHD1, MIR4767, STS
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)nssv15987048
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001711


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