A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3214299



Internal ID22360990
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:154344204..154387904hg38UCSC Ensembl
OuterchrX:153572572..153616264hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg38384
hg19384
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10361n152
Supporting Variantsnssv14269691, nssv14269692
SamplesNA19238, NA19239
Known GenesEMD, FLNA
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3214299
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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