A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15790270



Internal ID19515641
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:95051433..104152161hg38UCSC Ensembl
chr4:95972584..105073318hg19UCSC Ensembl
Cytoband4q22.3
Allele length
AssemblyAllele length
hg389100729
hg199100735
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4337628
Supporting Variants
Samples
Known GenesADH1A, ADH1B, ADH1C, ADH4, ADH5, ADH6, ADH7, BANK1, BDH2, BMPR1B, C4orf17, CENPE, CISD2, DAPP1, DDIT4L, DNAJB14, EIF4E, EMCN, EMCN-IT3, FLJ20021, H2AFZ, LAMTOR3, LOC100507053, LOC256880, MANBA, METAP1, MIR3684, MIR8066, MTTP, NFKB1, PCNAP1, PDHA2, PPP3CA, RAP1GDS1, SLC39A8, SLC9B1, SLC9B2, STPG2, STPG2-AS1, TACR3, TRMT10A, TSPAN5, UBE2D3, UNC5C
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)nssv15790270
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000046


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