A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3209188



Internal ID22357304
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:73592783..73624985hg38UCSC Ensembl
OuterchrX:72812619..72844820hg19UCSC Ensembl
CytobandXq13.2
Allele length
AssemblyAllele length
hg3832203
hg1932202
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14270683, nssv14270684
SamplesNA19239, NA19240
Known GenesCHIC1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3209188
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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