A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14269883



Internal ID22221000
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:65448012..65462417hg38UCSC Ensembl
OuterchrX:64667892..64682297hg19UCSC Ensembl
CytobandXq12
Allele length
AssemblyAllele length
hg38980
hg19980
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3219232
Supporting Variants
SamplesHG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14269883
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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