A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3206217



Internal ID22354794
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:154134662..154151625hg38UCSC Ensembl
OuterchrX:153400137..153417097hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg3816964
hg1916961
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14269263, nssv14269262
SamplesNA19239, NA19240
Known GenesOPN1LW
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3206217
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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