A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14269600



Internal ID22188596
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:113295074..113308754hg38UCSC Ensembl
OuterchrX:112538301..112551981hg19UCSC Ensembl
CytobandXq23
Allele length
AssemblyAllele length
hg38948
hg19948
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3215653
Supporting Variants
SamplesHG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14269600
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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