A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15790352



Internal ID19515724
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:155923517..167747365hg38UCSC Ensembl
chr4:156844669..168668516hg19UCSC Ensembl
Cytoband4q32.1
Allele length
AssemblyAllele length
hg3811823849
hg1911823848
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4340612
Supporting Variants
Samples
Known GenesANP32C, C4orf45, C4orf46, CPE, CTSO, ETFDH, FAM198B, FAM218A, FNIP2, FSTL5, GK3P, GLRB, GRIA2, KLHL2, LOC100505989, LOC100506013, LOC340017, MARCH1, MIR3688-1, MIR3688-2, MIR5684, MIR578, MSMO1, NAF1, NPY1R, NPY5R, PDGFC, PPID, RAPGEF2, RXFP1, SPOCK3, TKTL2, TLL1, TMA16, TMEM144, TMEM192, TRIM60, TRIM61
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)nssv15790352
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000046


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