A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3210177



Internal ID22358138
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:8864253..8865280hg38UCSC Ensembl
chr12:9016849..9017876hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg381028
hg191028
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14393479, nssv14421142, nssv14446311
SamplesNA19240, HG00733, HG00514
Known GenesA2ML1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3210177
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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