A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3196246



Internal ID22346288
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 StatusM
Merged Variants
Supporting Variantsnssv14353387, nssv14353388, nssv14390865
SamplesNA19238, NA19240
Known Genes
MethodMerging
Sequencing
AnalysisMultiple analysis algorthms
PhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformIllumina HiSeq
See merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3196246
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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