A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14270340



Internal ID22136378
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:103106090..103110753hg38UCSC Ensembl
OuterchrX:102361018..102365681hg19UCSC Ensembl
CytobandXq22.1
Allele length
AssemblyAllele length
hg382160
hg192160
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3220857
Supporting Variants
SamplesHG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14270340
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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