A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14270433



Internal ID22188990
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:81653861..81686359hg38UCSC Ensembl
OuterchrX:80909360..80941858hg19UCSC Ensembl
CytobandXq21.1
Allele length
AssemblyAllele length
hg381623
hg191623
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3210678
Supporting Variants
SamplesHG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14270433
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