A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3184335



Internal ID22338098
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:237592997..237593126hg38UCSC Ensembl
chr2:238501640..238501769hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38130
hg19130
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14432660
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)nsv3184335
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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