A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14270475



Internal ID22204626
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:100964077..100987616hg38UCSC Ensembl
OuterchrX:100219066..100242605hg19UCSC Ensembl
CytobandXq22.1
Allele length
AssemblyAllele length
hg38947
hg19947
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3219383
Supporting Variants
SamplesHG00732
Known GenesARL13A
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14270475
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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