A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14270605



Internal ID22136480
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:115436949..115456030hg38UCSC Ensembl
OuterchrX:114671706..114690774hg19UCSC Ensembl
CytobandXq23
Allele length
AssemblyAllele length
hg38659
hg19659
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3215677
Supporting Variants
SamplesHG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14270605
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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