A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14269768



Internal ID22274859
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:54497690..54550979hg38UCSC Ensembl
OuterchrX:54524123..54577412hg19UCSC Ensembl
CytobandXp11.22
Allele length
AssemblyAllele length
hg382304
hg192304
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3210575
Supporting Variants
SamplesNA19239
Known GenesGNL3L
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14269768
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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