A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3215444



Internal ID22361781
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:147988831..147995815hg38UCSC Ensembl
OuterchrX:147070351..147077335hg19UCSC Ensembl
CytobandXq27.3
Allele length
AssemblyAllele length
hg38760
hg19760
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14269649, nssv14269644, nssv14269645, nssv14269646, nssv14269647, nssv14269648
SamplesHG00512, NA19238, NA19239, HG00732, NA19240, HG00513
Known GenesFMR1NB
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3215444
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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