A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14270756



Internal ID22189144
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:155243712..155275494hg38UCSC Ensembl
OuterchrX:154471993..154504783hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg381104
hg191104
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3227488
Supporting Variants
SamplesHG00731
Known GenesRAB39B
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14270756
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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