A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv952416



Internal ID17301290
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:14181302..14222001hg38UCSC Ensembl
Outerchr18:14181301..14222000hg19UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg3840700
hg1940700
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2998849
SamplesBILGI_BIOE
Known GenesANKRD20A5P
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv952416
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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