A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3210048



Internal ID22358029
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:149311932..149436140hg38UCSC Ensembl
OuterchrX:148393462..148517671hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg38124209
hg19124210
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14270076, nssv14270074, nssv14270075
SamplesNA19238, HG00732, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3210048
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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