A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3182719



Internal ID22337242
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:175122458..175122510hg38UCSC Ensembl
chr1:175091594..175091646hg19UCSC Ensembl
Cytoband1q25.1
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14407006, nssv14463491, nssv14432422
SamplesNA19240, HG00733, HG00514
Known GenesTNN
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3182719
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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