A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3188513



Internal ID22340290
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:245103437..245103612hg38UCSC Ensembl
chr1:245266739..245266914hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38176
hg19176
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14377925
SamplesNA19240
Known GenesEFCAB2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3188513
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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