A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3203874



Internal ID22352818
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:67863558..67919572hg38UCSC Ensembl
OuterchrX:67083400..67139414hg19UCSC Ensembl
CytobandXq12
Allele length
AssemblyAllele length
hg3856015
hg1956015
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14268904, nssv14268906, nssv14268905, nssv14268907
SamplesNA19238, NA19240, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3203874
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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