A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14269101



Internal ID22136026
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:49017176..49026788hg38UCSC Ensembl
OuterchrX:48873578..48884298hg19UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg381274
hg191274
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3211976
Supporting Variants
SamplesHG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14269101
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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