A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3197682



Internal ID22347527
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:143634330..143673900hg38UCSC Ensembl
OuterchrX:142722146..142756978hg19UCSC Ensembl
CytobandXq27.3
Allele length
AssemblyAllele length
hg3839571
hg1934833
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14268461, nssv14268466, nssv14268467, nssv14268465, nssv14268460, nssv14268463, nssv14268462, nssv14268464, nssv14268459
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesSLITRK4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3197682
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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