A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14269627



Internal ID22204457
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:145487331..145502723hg38UCSC Ensembl
OuterchrX:144568849..144584241hg19UCSC Ensembl
CytobandXq27.3
Allele length
AssemblyAllele length
hg38804
hg19804
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3229528
Supporting Variants
SamplesHG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14269627
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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