A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3206991



Internal ID22355458
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:154320905..154387904hg38UCSC Ensembl
OuterchrX:153549252..153616264hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg3867000
hg1967013
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14270094
SamplesNA19238
Known GenesEMD, FLNA, TKTL1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3206991
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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