A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3174476



Internal ID22332829
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:117853963..117854015hg38UCSC Ensembl
chr2:118611539..118611591hg19UCSC Ensembl
Cytoband2q14.1
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14463679, nssv14433820
SamplesHG00733, HG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3174476
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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