A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14270586



Internal ID22136464
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:1259653..1387455hg38UCSC Ensembl
OuterchrX:1378546..1506348hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg38100
hg19100
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3226992
Supporting Variants
SamplesHG00513
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)nssv14270586
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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