A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3223212



Internal ID22367053
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:131086794..131164779hg38UCSC Ensembl
OuterchrX:130220768..130298753hg19UCSC Ensembl
CytobandXq26.1
Allele length
AssemblyAllele length
hg384523
hg194523
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14270155, nssv14270153, nssv14270156, nssv14270152, nssv14270158, nssv14270150, nssv14270157, nssv14270154, nssv14270151
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesARHGAP36
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3223212
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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