A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4148561



Internal ID20025369
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:44442840..44591519hg38UCSC Ensembl
chr7:44482439..44631118hg19UCSC Ensembl
Cytoband7p13
Allele length
AssemblyAllele length
hg38148680
hg19148680
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15918024
Samples
Known GenesDDX56, NPC1L1, NUDCD3, TMED4
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)nsv4148561
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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