A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14270782



Internal ID22297667
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:57629715..57719408hg38UCSC Ensembl
OuterchrX:57656148..57745841hg19UCSC Ensembl
CytobandXp11.21
Allele length
AssemblyAllele length
hg3827565
hg1927565
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3226181
Supporting Variants
SamplesNA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14270782
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