A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14269549



Internal ID22204440
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:5015448..5052802hg38UCSC Ensembl
OuterchrX:4933489..4970843hg19UCSC Ensembl
CytobandXp22.32
Allele length
AssemblyAllele length
hg389476
hg199476
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3213813
Supporting Variants
SamplesHG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14269549
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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