A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4005219



Internal ID22066850
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:180316438..180526534hg38UCSC Ensembl
Outerchr1:180311843..180534437hg38UCSC Ensembl
Innerchr1:180285573..180495670hg19UCSC Ensembl
Outerchr1:180280978..180503573hg19UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg38222595
hg19222596
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1154435
Supporting Variants
Samples
Known GenesACBD6, MIR3121
MethodSNP array
AnalysisDefault settings
Platform
Comments
ReferenceLou_et_al_2014
Pubmed ID25026903
Accession Number(s)nssv4005219
Frequency
Sample Size131
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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