A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4021415



Internal ID22083046
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:108966266..109196558hg38UCSC Ensembl
Outerchr1:108962290..109197926hg38UCSC Ensembl
Innerchr1:109508888..109739180hg19UCSC Ensembl
Outerchr1:109504912..109740548hg19UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg38235637
hg19235637
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1156341
Supporting Variants
Samples
Known GenesC1orf194, CLCC1, KIAA1324, SCARNA2, TAF13, TMEM167B, WDR47
MethodSNP array
AnalysisDefault settings
Platform
Comments
ReferenceLou_et_al_2014
Pubmed ID25026903
Accession Number(s)nssv4021415
Frequency
Sample Size131
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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