A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3190978



Internal ID22341754
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:147760071..147772910hg38UCSC Ensembl
OuterchrX:146841589..146854428hg19UCSC Ensembl
CytobandXq27.3
Allele length
AssemblyAllele length
hg3812840
hg1912840
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10349n152
Supporting Variantsnssv14270064, nssv14270063
SamplesNA19238, NA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3190978
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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