A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14270547



Internal ID22144198
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:103520784..103533609hg38UCSC Ensembl
OuterchrX:102775712..102788537hg19UCSC Ensembl
CytobandXq22.2
Allele length
AssemblyAllele length
hg381822
hg191822
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3213334
Supporting Variants
SamplesHG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14270547
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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