A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3198432



Internal ID22348154
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:52472636..52472690hg38UCSC Ensembl
chr6:52337434..52337488hg19UCSC Ensembl
Cytoband6p12.2
Allele length
AssemblyAllele length
hg3855
hg1955
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7900n152
Supporting Variantsnssv14412291
SamplesNA19240
Known GenesEFHC1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3198432
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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