A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3186313



Internal ID22339128
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:45041407..45041468hg38UCSC Ensembl
chrX:44900652..44900713hg19UCSC Ensembl
CytobandXp11.3
Allele length
AssemblyAllele length
hg3862
hg1962
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14374486
SamplesNA19240
Known GenesKDM6A
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3186313
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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