A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3173291



Internal ID22332246
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:22570513..22570606hg38UCSC Ensembl
chr1:22897006..22897099hg19UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg3894
hg1994
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv139n152
Supporting Variantsnssv14383751
SamplesNA19240
Known GenesEPHA8
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3173291
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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