A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14270767



Internal ID22298704
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:3960375..3962822hg38UCSC Ensembl
OuterchrX:3878416..3880863hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg386083
hg196083
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3222826
Supporting Variants
SamplesNA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14270767
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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