A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14269775



Internal ID22270156
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:66032036..66056384hg38UCSC Ensembl
OuterchrX:65251878..65276226hg19UCSC Ensembl
CytobandXq12
Allele length
AssemblyAllele length
hg38850
hg19850
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3228666
Supporting Variants
SamplesNA19239
Known GenesVSIG4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14269775
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer