A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3177024



Internal ID22334206
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:234395311..234395503hg38UCSC Ensembl
chr1:234531057..234531249hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg38193
hg19193
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14453699
SamplesHG00733
Known GenesTARBP1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3177024
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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