A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3191403



Internal ID22342114
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:37382263..37393770hg38UCSC Ensembl
OuterchrX:37241516..37253023hg19UCSC Ensembl
CytobandXp21.1
Allele length
AssemblyAllele length
hg3811508
hg1911508
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14269856
SamplesHG00514
Known GenesPRRG1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3191403
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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