A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4035170



Internal ID20165425
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:45097157..45097263hg38UCSC Ensembl
chrX:44956402..44956508hg19UCSC Ensembl
CytobandXp11.3
Allele length
AssemblyAllele length
hg38107
hg19107
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15944035
Samples
Known GenesKDM6A
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 ID32461652
Accession Number(s)nsv4035170
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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