A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14392514



Internal ID22308150
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:2602164..2602243hg38UCSC Ensembl
chr1:2533603..2533682hg19UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg3880
hg1980
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3186249
Supporting Variants
SamplesNA19240
Known GenesMMEL1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14392514
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