A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4329469



Internal ID19838862
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:67266654..71123544hg38UCSC Ensembl
chr1:67732337..71589227hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg383856891
hg193856891
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16090133
Samples
Known GenesANKRD13C, CTH, DEPDC1, DIRAS3, GADD45A, GNG12, GNG12-AS1, HHLA3, IL12RB2, LRRC40, LRRC7, MIR1262, MIR186, PIN1P1, PTGER3, RPE65, SERBP1, SRSF11, WLS, ZRANB2, ZRANB2-AS1, ZRANB2-AS2
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)nsv4329469
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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