A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14269455



Internal ID22200131
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 StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3203524
Supporting Variants
SamplesHG00732
Known GenesIL1RAPL2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14269455
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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