A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3205159



Internal ID22353897
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:73933825..73951346hg38UCSC Ensembl
OuterchrX:73153660..73171181hg19UCSC Ensembl
CytobandXq13.2
Allele length
AssemblyAllele length
hg3817522
hg1917522
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14270685, nssv14270686
SamplesNA19239, NA19240
Known GenesJPX
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3205159
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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