A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3209380



Internal ID22357469
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:81955113..81990647hg38UCSC Ensembl
OuterchrX:81210562..81246096hg19UCSC Ensembl
CytobandXq21.1
Allele length
AssemblyAllele length
hg3835535
hg1935535
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14269806
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3209380
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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