A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14269765



Internal ID22122210
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:52461153..52512179hg38UCSC Ensembl
OuterchrX:52204296..52541155hg19UCSC Ensembl
CytobandXp11.22
Allele length
AssemblyAllele length
hg3812937
hg1912937
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3216296
Supporting Variants
SamplesHG00512
Known GenesXAGE1A, XAGE1B, XAGE1C, XAGE1D, XAGE1E, XAGE2, XAGE2B
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14269765
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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