A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3186249



Internal ID22339097
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:2602164..2602243hg38UCSC Ensembl
chr1:2533603..2533682hg19UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg3880
hg1980
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv41n152
Supporting Variantsnssv14392514, nssv14413489
SamplesNA19240, HG00514
Known GenesMMEL1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3186249
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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