A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4317400



Internal ID19838085
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:70052381..71622968hg38UCSC Ensembl
chrX:69272231..70842818hg19UCSC Ensembl
CytobandXq13.1
Allele length
AssemblyAllele length
hg381570588
hg191570588
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16090472
Samples
Known GenesACRC, ARR3, AWAT1, BCYRN1, CXCR3, CXorf65, DGAT2L6, DLG3, FOXO4, GDPD2, GJB1, IGBP1, IL2RG, INGX, ITGB1BP2, KIF4A, MED12, NLGN3, NONO, OGT, OTUD6A, P2RY4, PDZD11, RAB41, SLC7A3, SNX12, TAF1, TEX11, ZMYM3
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)nsv4317400
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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