A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15923266



Internal ID19648520
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:103303943..103304111hg38UCSC Ensembl
chr7:102944390..102944558hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg38169
hg19169
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4170302
Supporting Variants
Samples
Known GenesPMPCB
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)nssv15923266
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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