A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4340065



Internal ID19840542
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 StatusM
Merged Variants
Supporting Variantsnssv15788156
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)nsv4340065
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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