A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14269649



Internal ID22302383
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3215444
Supporting Variants
SamplesNA19240
Known GenesFMR1NB
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14269649
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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