A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3220586



Internal ID22365241
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:54423384..54451508hg38UCSC Ensembl
OuterchrX:54449817..54477941hg19UCSC Ensembl
CytobandXp11.22
Allele length
AssemblyAllele length
hg38985
hg19985
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14270708, nssv14270707, nssv14270705, nssv14270711, nssv14270706, nssv14270709, nssv14270710
SamplesHG00512, NA19238, NA19239, HG00732, NA19240, HG00733, HG00513
Known GenesFGD1, TSR2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3220586
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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