A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3195384



Internal ID22345576
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:49963105..49977163hg38UCSC Ensembl
OuterchrX:49727715..49741774hg19UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg3814059
hg1914060
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14268884, nssv14268883, nssv14268885
SamplesNA19238, NA19239, NA19240
Known GenesCLCN5
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3195384
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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