A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14269018



Internal ID22293946
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:26409946..26466513hg38UCSC Ensembl
OuterchrX:26428063..26484630hg19UCSC Ensembl
CytobandXp21.3
Allele length
AssemblyAllele length
hg382344
hg192344
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3226716
Supporting Variants
SamplesNA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14269018
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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