A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4337141



Internal ID19839935
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:15581693..30872481hg38UCSC Ensembl
chr21:16954012..32244800hg19UCSC Ensembl
Cytoband21q21.1
Allele length
AssemblyAllele length
hg3815290789
hg1915290789
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15789286
Samples
Known GenesADAMTS1, ADAMTS5, APP, ATP5J, BACH1, BTG3, C21orf37, C21orf91, C21orf91-OT1, CCT8, CHODL, CHODL-AS1, CLDN17, CLDN8, CXADR, CYYR1, D21S2088E, GABPA, GRIK1, GRIK1-AS1, GRIK1-AS2, JAM2, KRTAP13-1, KRTAP13-2, KRTAP13-3, KRTAP13-4, KRTAP15-1, KRTAP19-1, KRTAP19-2, KRTAP19-3, KRTAP19-4, KRTAP19-5, KRTAP19-6, KRTAP19-7, KRTAP20-1, KRTAP20-2, KRTAP20-3, KRTAP20-4, KRTAP21-1, KRTAP21-2, KRTAP21-3, KRTAP22-1, KRTAP22-2, KRTAP23-1, KRTAP24-1, KRTAP25-1, KRTAP26-1, KRTAP27-1, KRTAP6-1, KRTAP6-2, KRTAP6-3, KRTAP7-1, KRTAP8-1, LINC00113, LINC00158, LINC00161, LINC00189, LINC00307, LINC00308, LINC00314, LINC00317, LINC00320, LINC00478, LINC00515, LOC339622, LTN1, MAP3K7CL, MIR125B2, MIR155, MIR155HG, MIR4327, MIR4759, MIR5009, MIR99A, MIRLET7C, MRPL39, N6AMT1, NCAM2, RNU6-67P, RWDD2B, TMPRSS15, USP16, USP25
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)nsv4337141
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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