A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14390865



Internal ID22292437
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:143783214..143783277hg38UCSC Ensembl
chrX:142866309..142866372hg19UCSC Ensembl
CytobandXq27.3
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3196246
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)nssv14390865
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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