A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14271154



Internal ID22197752
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:79982925..80016275hg38UCSC Ensembl
OuterchrX:79238424..79271774hg19UCSC Ensembl
CytobandXq21.1
Allele length
AssemblyAllele length
hg385785
hg195785
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3215824
Supporting Variants
SamplesHG00732
Known GenesTBX22
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14271154
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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