A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3195180



Internal ID22345397
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:143320132..143406985hg38UCSC Ensembl
OuterchrX:142407927..142494780hg19UCSC Ensembl
CytobandXq27.3
Allele length
AssemblyAllele length
hg3886854
hg1986854
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10331n152
Supporting Variantsnssv14269463
SamplesHG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3195180
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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