A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15791696



Internal ID19517090
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:263192..1730563hg38UCSC Ensembl
chrX:179859..1849456hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg381467372
hg191669598
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4323028
Supporting Variants
Samples
Known GenesAKAP17A, ASMT, ASMTL, ASMTL-AS1, CRLF2, CSF2RA, GTPBP6, IL3RA, LINC00685, MIR3690, MIR3690-2, P2RY8, PLCXD1, PPP2R3B, SHOX, SLC25A6
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
Commentscomplex variant
ReferencegnomAD_Structural_Variants
Pubmed ID12345678
Accession Number(s)nssv15791696
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000046


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