A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3215818



Internal ID22362023
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:73000736..73027038hg38UCSC Ensembl
OuterchrX:72220575..72246877hg19UCSC Ensembl
CytobandXq13.2
Allele length
AssemblyAllele length
hg381332
hg191332
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14270473
SamplesNA19240
Known GenesPABPC1L2B
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3215818
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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