A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1156552



Internal ID22086953
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:121430469..121614083hg38UCSC Ensembl
Outerchr1:121426988..121694421hg38UCSC Ensembl
Innerchr1:121172329..121355881hg19UCSC Ensembl
Outerchr1:121168848..121436219hg19UCSC Ensembl
Cytoband1p11.2
Allele length
AssemblyAllele length
hg38267434
hg19267372
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4020518
Samples
Known GenesEMBP1
MethodSNP array
AnalysisDefault settings
Platform
Comments
ReferenceLou_et_al_2014
Pubmed ID25026903
Accession Number(s)nsv1156552
Frequency
Sample Size131
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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