A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3220237



Internal ID22364993
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:139494667..139525975hg38UCSC Ensembl
OuterchrX:138576826..138608134hg19UCSC Ensembl
CytobandXq27.1
Allele length
AssemblyAllele length
hg382355
hg192355
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14270171, nssv14270178, nssv14270174, nssv14270172, nssv14270177, nssv14270175, nssv14270176, nssv14270170, nssv14270173
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3220237
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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