A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14269680



Internal ID22312576
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:153024150..153031385hg38UCSC Ensembl
OuterchrX:152192685..152199730hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg384611
hg194611
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3216368
Supporting Variants
SamplesNA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14269680
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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