A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3200423



Internal ID22349873
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:4973980..4990060hg38UCSC Ensembl
OuterchrX:4892021..4908101hg19UCSC Ensembl
CytobandXp22.32
Allele length
AssemblyAllele length
hg3816081
hg1916081
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14268949
SamplesHG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3200423
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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