A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14269754



Internal ID22273449
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:15022176..15032801hg38UCSC Ensembl
OuterchrX:15040298..15050923hg19UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg381007
hg191007
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3228313
Supporting Variants
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14269754
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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