A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14270790



Internal ID22136548
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:154344204..154391905hg38UCSC Ensembl
OuterchrX:153572572..153620247hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg38100
hg19100
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3220460
Supporting Variants
SamplesHG00513
Known GenesEMD, FLNA
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14270790
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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