A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3204357



Internal ID22353221
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:44403564..44448454hg38UCSC Ensembl
OuterchrX:44262810..44307700hg19UCSC Ensembl
CytobandXp11.3
Allele length
AssemblyAllele length
hg3844891
hg1944891
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14269858
SamplesHG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3204357
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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