A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14269217



Internal ID22258482
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:1259653..1387455hg38UCSC Ensembl
OuterchrX:1378546..1506348hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg38127803
hg19127803
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3198629
Supporting Variants
SamplesNA19238
Known GenesCSF2RA, IL3RA, MIR3690, MIR3690-2, SLC25A6
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14269217
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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