A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3189308



Internal ID22340704
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:37064482..37065502hg38UCSC Ensembl
chr5:37064584..37065604hg19UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg381021
hg191021
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14455712
SamplesHG00733
Known GenesNIPBL
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3189308
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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