A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3288983



Internal ID22387402
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:38144172..38144224hg38UCSC Ensembl
chr6:38111948..38112000hg19UCSC Ensembl
Cytoband6p21.2
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7861n152
Supporting Variantsnssv14412246
SamplesNA19240
Known GenesZFAND3
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences at least 70% masked by tandem repeat finder or contained within a tandem repeat
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3288983
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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