A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3196012



Internal ID22346101
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:44659135..44671231hg38UCSC Ensembl
OuterchrX:44518381..44530477hg19UCSC Ensembl
CytobandXp11.3
Allele length
AssemblyAllele length
hg3812097
hg1912097
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14268863, nssv14268864, nssv14268862
SamplesNA19238, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3196012
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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