A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3204031



Internal ID22352945
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:34403818..34462967hg38UCSC Ensembl
OuterchrX:34421935..34481084hg19UCSC Ensembl
CytobandXp21.1
Allele length
AssemblyAllele length
hg3859150
hg1959150
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14268834, nssv14268836, nssv14268835, nssv14268837
SamplesNA19238, NA19239, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3204031
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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