A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4075229



Internal ID19972063
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:129996647..132380639hg38UCSC Ensembl
chr2:130754220..133138212hg19UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg382383993
hg192383993
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15871655
Samples
Known GenesAMER3, ANKRD30BL, ARHGEF4, C2orf27A, C2orf27B, CCDC115, CCDC74A, CCDC74B, CFC1, CFC1B, CYP4F30P, CYP4F62P, FAM168B, FAR2P1, FAR2P2, GPR148, IMP4, LINC01087, LINC01120, LOC150776, LOC401010, LOC440910, LOC646743, MED15P9, MIR4784, MIR663B, MZT2A, MZT2B, PLEKHB2, POTEE, POTEF, POTEI, POTEJ, POTEKP, PTPN18, RNU6-81P, SMPD4, TISP43, TUBA3D, TUBA3E, WTH3DI
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)nsv4075229
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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