A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4135178



Internal ID20362338
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:75704820..75714731hg38UCSC Ensembl
chr7:75334138..75344049hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg389912
hg199912
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15981081
Samples
Known GenesHIP1
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)nsv4135178
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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