A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4241151



Internal ID20091604
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:12027942..12031811hg38UCSC Ensembl
chr17:11931259..11935128hg19UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg383870
hg193870
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15834218
Samples
Known GenesMAP2K4
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)nsv4241151
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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