A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14269732



Internal ID22188649
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:1464628..1502496hg38UCSC Ensembl
OuterchrX:1583521..1621389hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg381220
hg191220
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3211792
Supporting Variants
SamplesHG00731
Known GenesP2RY8
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14269732
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