A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14269470



Internal ID22256268
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:309228..367186hg38UCSC Ensembl
OuterchrX:225895..327921hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg385221
hg195221
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3212521
Supporting Variants
SamplesNA19238
Known GenesGTPBP6, LINC00685, PPP2R3B
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14269470
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