A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3226441



Internal ID22369239
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:1293169..1306305hg38UCSC Ensembl
OuterchrX:1412062..1425198hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg381814
hg191814
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14270766
SamplesNA19240
Known GenesCSF2RA, MIR3690, MIR3690-2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3226441
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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