A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14269691



Internal ID22258237
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3214299
Supporting Variants
SamplesNA19238
Known GenesEMD, FLNA
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14269691
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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