A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3202243



Internal ID22351432
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:117584796..117591917hg38UCSC Ensembl
OuterchrX:116718759..116725880hg19UCSC Ensembl
CytobandXq24
Allele length
AssemblyAllele length
hg387122
hg197122
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14269457
SamplesHG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3202243
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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