A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4557623



Internal ID19940813
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:4398599..4642667hg38UCSC Ensembl
chr16:4448600..4692668hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38244069
hg19244069
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv847n166
Supporting Variantsnssv15788344
Samples
Known GenesC16orf96, CDIP1, CORO7, CORO7-PAM16, DNAJA3, HMOX2, MGRN1, NMRAL1, UBALD1
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
Commentscomplex variant
ReferencegnomAD_Structural_Variants
Pubmed ID12345678
Accession Number(s)nsv4557623
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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