A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3207590



Internal ID22355953
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:90003387..90104196hg38UCSC Ensembl
OuterchrX:89258386..89359195hg19UCSC Ensembl
CytobandXq21.31
Allele length
AssemblyAllele length
hg38100810
hg19100810
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14269816
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3207590
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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