A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4322564



Internal ID19838416
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:125643919..131139787hg38UCSC Ensembl
chr7:125283973..130824546hg19UCSC Ensembl
Cytoband7q31.33
Allele length
AssemblyAllele length
hg385495869
hg195540574
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16091427
Samples
Known GenesAHCYL2, ARF5, ATP6V1F, CALU, CCDC136, CEP41, COPG2, CPA1, CPA2, CPA4, CPA5, FAM71F1, FAM71F2, FLNC, FSCN3, GCC1, GRM8, HILPDA, IMPDH1, IRF5, KCP, KLF14, KLHDC10, LEP, LINC01000, LINC-PINT, LOC100130705, LOC407835, LOC646329, LRRC4, MEST, MESTIT1, METTL2B, MGC27345, MIR129-1, MIR182, MIR183, MIR29A, MIR29B1, MIR335, MIR592, MIR593, MIR96, MKLN1, NRF1, OPN1SW, PAX4, PRRT4, RBM28, SMKR1, SMO, SND1, SND1-IT1, SSMEM1, STRIP2, TMEM209, TNPO3, TPI1P2, TSGA13, TSPAN33, UBE2H, ZC3HC1, ZNF800
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)nsv4322564
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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