A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4337631



Internal ID19840040
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:60664636..64752350hg38UCSC Ensembl
chr5:59960463..64048177hg19UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg384087715
hg194087715
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15790515
Samples
Known GenesC5orf64, DEPDC1B, DIMT1, ELOVL7, ERCC8, FAM159B, HTR1A, IPO11, IPO11-LRRC70, KIF2A, LOC100506526, LRRC70, NDUFAF2, RGS7BP, RNF180, SMIM15, SREK1IP1, ZSWIM6
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)nsv4337631
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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