A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14405202



Internal ID22321963
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:148157673..148157673hg38UCSC Ensembl
chrX:147239193..147239193hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg381815
hg191815
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3541000
Supporting Variants
SamplesNA19240
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14405202
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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