A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4535530



Internal ID20265562
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:96749937..96749938hg38UCSC Ensembl
chr1:97215493..97215494hg19UCSC Ensembl
Cytoband1p21.3
Allele length
AssemblyAllele length
hg38261
hg19261
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16026553
Samples
Known GenesPTBP2
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)nsv4535530
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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