A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14270565



Internal ID22122520
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:130367762..130395644hg38UCSC Ensembl
OuterchrX:129501736..129529618hg19UCSC Ensembl
CytobandXq26.1
Allele length
AssemblyAllele length
hg381023
hg191023
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3225268
Supporting Variants
SamplesHG00512
Known GenesGPR119, SLC25A14
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14270565
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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