A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3194362



Internal ID22344682
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:5124220..5142537hg38UCSC Ensembl
OuterchrX:5042261..5060578hg19UCSC Ensembl
CytobandXp22.32
Allele length
AssemblyAllele length
hg3818318
hg1918318
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14268801, nssv14268312
SamplesNA19238, HG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3194362
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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