A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3207494



Internal ID22355876
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:126703501..126730962hg38UCSC Ensembl
OuterchrX:125837484..125864945hg19UCSC Ensembl
CytobandXq25
Allele length
AssemblyAllele length
hg3827462
hg1927462
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10279n152
Supporting Variantsnssv14269244, nssv14269243
SamplesNA19239, NA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3207494
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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