A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4519695



Internal ID20249814
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:85661876..87008877hg38UCSC Ensembl
chr2:85888999..87236000hg19UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg381347002
hg191347002
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15871781
Samples
Known GenesANAPC1P1, ATOH8, CD8A, CD8B, CHMP3, GNLY, IMMT, KDM3A, LOC284950, LOC90784, MIR4779, MIR6071, MRPL35, POLR1A, PTCD3, REEP1, RGPD1, RGPD2, RMND5A, RNF103, RNF103-CHMP3, SFTPB, SNORD94, ST3GAL5
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)nsv4519695
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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