A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14269770



Internal ID22122212
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:55552811..55653716hg38UCSC Ensembl
OuterchrX:55579244..55680149hg19UCSC Ensembl
CytobandXp11.21
Allele length
AssemblyAllele length
hg386209
hg196209
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3223585
Supporting Variants
SamplesHG00512
Known GenesFOXR2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14269770
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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