A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3203802



Internal ID22352756
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:73000736..73082281hg38UCSC Ensembl
OuterchrX:72220575..72302120hg19UCSC Ensembl
CytobandXq13.2
Allele length
AssemblyAllele length
hg3881546
hg1981546
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14268930, nssv14268911
SamplesNA19238, HG00731
Known GenesPABPC1L2A, PABPC1L2B
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3203802
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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