A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14270473



Internal ID22316954
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3215818
Supporting Variants
SamplesNA19240
Known GenesPABPC1L2B
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14270473
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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