A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv954002



Internal ID17302876
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:239714601..239734400hg38UCSC Ensembl
Outerchr1:239877901..239897700hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg3819800
hg1919800
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3001631
SamplesBILGI_BIOE
Known GenesCHRM3, CHRM3-AS2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv954002
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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