A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14269036



Internal ID22256960
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:30762544..30815360hg38UCSC Ensembl
OuterchrX:30780661..30833477hg19UCSC Ensembl
CytobandXp21.2
Allele length
AssemblyAllele length
hg384642
hg194642
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3222161
Supporting Variants
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14269036
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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