A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14270487



Internal ID22317146
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:122736917..122830247hg38UCSC Ensembl
OuterchrX:121870770..121964100hg19UCSC Ensembl
CytobandXq25
Allele length
AssemblyAllele length
hg383770
hg193770
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3218604
Supporting Variants
SamplesNA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14270487
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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