A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14270167



Internal ID22259072
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:137311213..137329998hg38UCSC Ensembl
OuterchrX:136393372..136412157hg19UCSC Ensembl
CytobandXq26.3
Allele length
AssemblyAllele length
hg381653
hg191653
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3216196
Supporting Variants
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14270167
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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