A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14269481



Internal ID22136132
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:710383..734999hg38UCSC Ensembl
OuterchrX:671118..695734hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg382436
hg192436
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3210613
Supporting Variants
SamplesHG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14269481
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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