A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3203524



Internal ID22352521
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:105006209..105058184hg38UCSC Ensembl
OuterchrX:104250891..104302866hg19UCSC Ensembl
CytobandXq22.3
Allele length
AssemblyAllele length
hg3851976
hg1951976
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14269455
SamplesHG00732
Known GenesIL1RAPL2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3203524
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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