A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3549526



Internal ID22418470
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:195615104..195996875hg38UCSC Ensembl
chr3:195341975..195723746hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38381772
hg19381772
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14466684, nssv14453640, nssv14467525
SamplesNA19238, NA19239, NA19240
Known GenesMIR570, MIR6829, MUC20, MUC4, SDHAP1, SDHAP2, TNK2
MethodSequencing
AnalysisSingle strand sequencing, and assortment analysis
PlatformStrand-seq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3549526
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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