A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14270754



Internal ID22277109
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:154589035..154615384hg38UCSC Ensembl
OuterchrX:153817295..153843640hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg38486
hg19486
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3212233
Supporting Variants
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14270754
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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