A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14270811



Internal ID22189178
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:47967835..47973467hg38UCSC Ensembl
OuterchrX:47827234..47832866hg19UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg38612
hg19612
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3219974
Supporting Variants
SamplesHG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14270811
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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