A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4017912



Internal ID22079543
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:91854224..92170137hg38UCSC Ensembl
Outerchr1:91852334..92176097hg38UCSC Ensembl
Innerchr1:92319781..92635694hg19UCSC Ensembl
Outerchr1:92317891..92641654hg19UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg38323764
hg19323764
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1156088
Supporting Variants
Samples
Known GenesBRDT, BTBD8, EPHX4, KIAA1107, TGFBR3
MethodSNP array
AnalysisDefault settings
Platform
Comments
ReferenceLou_et_al_2014
Pubmed ID25026903
Accession Number(s)nssv4017912
Frequency
Sample Size131
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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