A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4538323



Internal ID19889578
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:139570036..139570037hg38UCSC Ensembl
chr7:139254782..139254783hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg38487
hg19487
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16077431
Samples
Known GenesHIPK2
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)nsv4538323
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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