A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3206252



Internal ID22354822
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:143467450..143478005hg38UCSC Ensembl
OuterchrX:142555233..142565788hg19UCSC Ensembl
CytobandXq27.3
Allele length
AssemblyAllele length
hg3810556
hg1910556
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14268458, nssv14268457
SamplesNA19238, NA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3206252
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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