A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14270512



Internal ID22199093
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:42459894..42478060hg38UCSC Ensembl
OuterchrX:42319146..42337312hg19UCSC Ensembl
CytobandXp11.4
Allele length
AssemblyAllele length
hg38758
hg19758
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3214167
Supporting Variants
SamplesHG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14270512
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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