A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3198629



Internal ID22348329
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9947n152
Supporting Variantsnssv14269218, nssv14269217, nssv14269216
SamplesNA19238, NA19240, HG00733
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)nsv3198629
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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