A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3185679



Internal ID22338799
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:131039662..131039731hg38UCSC Ensembl
chr3:130758506..130758575hg19UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg3870
hg1970
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14451597
SamplesHG00733
Known GenesNEK11
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3185679
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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