A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3177865



Internal ID22334664
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:243845405..243849760hg38UCSC Ensembl
chr1:244008707..244013062hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg384356
hg194356
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv650n152
Supporting Variantsnssv14414510
SamplesHG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3177865
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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