A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3216368



Internal ID22362383
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:153024150..153031385hg38UCSC Ensembl
OuterchrX:152192685..152199730hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg384611
hg194611
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14269680, nssv14269679, nssv14269678
SamplesNA19238, NA19239, NA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3216368
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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