A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4132870



Internal ID20013973
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 StatusM
Merged Variants
Supporting Variantsnssv15920704
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)nsv4132870
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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