A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3204953



Internal ID22353725
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:83210703..83218824hg38UCSC Ensembl
chr17:81158472..81166593hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg388122
hg198122
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14457885, nssv14467248
SamplesHG00733
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3204953
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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