A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3222196



Internal ID22366352
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:45087222..45140838hg38UCSC Ensembl
OuterchrX:44946467..45000083hg19UCSC Ensembl
CytobandXp11.3
Allele length
AssemblyAllele length
hg381811
hg191811
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14269078, nssv14269082, nssv14269079, nssv14269081, nssv14269083, nssv14269085, nssv14269084, nssv14269080
SamplesNA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesKDM6A
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3222196
Frequency
Sample Size9
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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