A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3195398



Internal ID22345588
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:56633290..56648389hg38UCSC Ensembl
OuterchrX:56659723..56674822hg19UCSC Ensembl
CytobandXp11.21
Allele length
AssemblyAllele length
hg3815100
hg1915100
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10132n152
Supporting Variantsnssv14268902, nssv14268899, nssv14268900, nssv14268901
SamplesNA19238, HG00731, NA19240, HG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3195398
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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