A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14269638



Internal ID22122168
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:147271469..147286457hg38UCSC Ensembl
OuterchrX:146352987..146367975hg19UCSC Ensembl
CytobandXq27.3
Allele length
AssemblyAllele length
hg382882
hg192882
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3215071
Supporting Variants
SamplesHG00512
Known GenesMIR510, MIR514A1, MIR514A2, MIR514A3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14269638
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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