A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14270491



Internal ID22233071
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:147269450..147298842hg38UCSC Ensembl
OuterchrX:146350968..146380360hg19UCSC Ensembl
CytobandXq27.3
Allele length
AssemblyAllele length
hg384425
hg194425
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3221736
Supporting Variants
SamplesHG00733
Known GenesMIR510, MIR514A1, MIR514A2, MIR514A3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14270491
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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