A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3200800



Internal ID22350197
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:83892229..83892309hg38UCSC Ensembl
chr1:84357912..84357992hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3881
hg1981
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv308n152
Supporting Variantsnssv14430289
SamplesHG00514
Known GenesMIR548AP, TTLL7
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3200800
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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