A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15920704



Internal ID19645958
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:63031275..65477982hg38UCSC Ensembl
chr7:62491653..64942895hg19UCSC Ensembl
Cytoband7q11.21
Allele length
AssemblyAllele length
hg382446708
hg192451243
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4132870
Supporting Variants
Samples
Known GenesCCT6P3, ERV3-1, LINC01005, LOC100128885, LOC100287704, LOC100287834, LOC641746, MIR4283-1, MIR4283-2, MIR6839, YWHAEP1, ZNF107, ZNF117, ZNF138, ZNF273, ZNF679, ZNF680, ZNF727, ZNF733P, ZNF735, ZNF736, ZNF92
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)nssv15920704
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer