A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4555595



Internal ID20285470
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:43616308..43616309hg38UCSC Ensembl
chr19:44120460..44120461hg19UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg38822
hg19822
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16023830
Samples
Known GenesZNF428
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)nsv4555595
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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