A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3286453



Internal ID22384845
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:102606399..102606674hg38UCSC Ensembl
chr7:102246846..102247121hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg38276
hg19276
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14377814
SamplesNA19240
Known GenesRASA4, RASA4B
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences detected as low complexity by RepeatMasker/3.3.0
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3286453
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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