A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14270798



Internal ID22204697
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:83857967..83888229hg38UCSC Ensembl
OuterchrX:83112975..83143237hg19UCSC Ensembl
CytobandXq21.1
Allele length
AssemblyAllele length
hg381130
hg191130
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3224818
Supporting Variants
SamplesHG00732
Known GenesCYLC1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14270798
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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