A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3181993



Internal ID22336860
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:58830400..58830820hg38UCSC Ensembl
chr1:59296072..59296492hg19UCSC Ensembl
Cytoband1p32.1
Allele length
AssemblyAllele length
hg38421
hg19421
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14413157
SamplesHG00514
Known GenesLINC01135
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3181993
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