A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3215071



Internal ID22361520
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:147271469..147286457hg38UCSC Ensembl
OuterchrX:146352987..146367975hg19UCSC Ensembl
CytobandXq27.3
Allele length
AssemblyAllele length
hg382882
hg192882
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14269639, nssv14269640, nssv14269638, nssv14269643, nssv14269641, nssv14269642
SamplesHG00512, NA19238, NA19239, HG00732, NA19240, HG00514
Known GenesMIR510, MIR514A1, MIR514A2, MIR514A3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3215071
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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