A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3193853



Internal ID22344248
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:78633993..78715294hg38UCSC Ensembl
OuterchrX:77889490..77970791hg19UCSC Ensembl
CytobandXq21.1
Allele length
AssemblyAllele length
hg3881302
hg1981302
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14268963
SamplesHG00732
Known GenesZCCHC5
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3193853
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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