A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3196665



Internal ID22346640
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:52261127..52277540hg38UCSC Ensembl
OuterchrX:52004254..52020661hg19UCSC Ensembl
CytobandXp11.22
Allele length
AssemblyAllele length
hg3816414
hg1916408
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14269795
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3196665
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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