A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3192616



Internal ID22343170
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:124737718..124823651hg38UCSC Ensembl
OuterchrX:123871568..123957500hg19UCSC Ensembl
CytobandXq25
Allele length
AssemblyAllele length
hg3885934
hg1985933
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14268431
SamplesNA19238
Known GenesTENM1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3192616
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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