A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15788156



Internal ID19513505
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:63034367..65942751hg38UCSC Ensembl
chr14:63501085..66409469hg19UCSC Ensembl
Cytoband14q23.2
Allele length
AssemblyAllele length
hg382908385
hg192908385
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4340065
Supporting Variants
Samples
Known GenesAKAP5, CHURC1, CHURC1-FNTB, ESR2, FNTB, FUT8, FUT8-AS1, GPHB5, GPX2, HSPA2, KCNH5, LOC100128233, LOC100506321, MAX, MIR4706, MIR4708, MIR548AZ, MIR7855, MTHFD1, PLEKHG3, PPP1R36, PPP2R5E, RAB15, RHOJ, SGPP1, SPTB, SYNE2, TEX21P, WDR89, ZBTB1, ZBTB25
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
Commentscomplex variant
ReferencegnomAD_Structural_Variants
Pubmed ID12345678
Accession Number(s)nssv15788156
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000138


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