A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3178516



Internal ID22335036
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:86469239..86469383hg38UCSC Ensembl
chr1:86934922..86935066hg19UCSC Ensembl
Cytoband1p22.3
Allele length
AssemblyAllele length
hg38145
hg19145
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14440613
SamplesHG00733
Known GenesCLCA1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3178516
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer