A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3172447



Internal ID22331810
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:29333688..29333750hg38UCSC Ensembl
chrX:29351805..29351867hg19UCSC Ensembl
CytobandXp21.2
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14439914
SamplesHG00733
Known GenesIL1RAPL1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3172447
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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