A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3200537



Internal ID22349969
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:120079477..120156821hg38UCSC Ensembl
OuterchrX:119213435..119290727hg19UCSC Ensembl
CytobandXq24
Allele length
AssemblyAllele length
hg3877345
hg1977293
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14268411
SamplesNA19238
Known GenesRHOXF1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3200537
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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