A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14269751



Internal ID22188658
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:8402009..8440189hg38UCSC Ensembl
OuterchrX:8370050..8408230hg19UCSC Ensembl
CytobandXp22.31
Allele length
AssemblyAllele length
hg38783
hg19783
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3215962
Supporting Variants
SamplesHG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14269751
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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