A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4563011



Internal ID19946214
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:66407413..66882306hg38UCSC Ensembl
chr7:65872400..66347293hg19UCSC Ensembl
Cytoband7q11.21
Allele length
AssemblyAllele length
hg38474894
hg19474894
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15791103
Samples
Known GenesGTF2IRD1P1, KCTD7, LOC493754, RABGEF1
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)nsv4563011
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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