A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14269657



Internal ID22225300
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:148184881..148199320hg38UCSC Ensembl
OuterchrX:147266401..147280840hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg381164
hg191164
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3223193
Supporting Variants
SamplesHG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14269657
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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