A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3199184



Internal ID22348805
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:5124220..5198347hg38UCSC Ensembl
OuterchrX:5042261..5116388hg19UCSC Ensembl
CytobandXp22.32
Allele length
AssemblyAllele length
hg3874128
hg1974128
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10015n152
Supporting Variantsnssv14269283, nssv14269284, nssv14269285
SamplesHG00732, NA19240, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3199184
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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