A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14270537



Internal ID22122498
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:79974140..80016275hg38UCSC Ensembl
OuterchrX:79229639..79271774hg19UCSC Ensembl
CytobandXq21.1
Allele length
AssemblyAllele length
hg3812320
hg1912320
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3215354
Supporting Variants
SamplesHG00512
Known GenesTBX22
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14270537
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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