A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3217154



Internal ID22362902
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:2613376..2639000hg38UCSC Ensembl
OuterchrX:2531417..2557041hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg38812
hg19812
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14269526, nssv14269528, nssv14269527
SamplesHG00512, NA19238, HG00513
Known GenesCD99P1, LINC00102
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3217154
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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