A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv950418



Internal ID16952605
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:141877036..141878835hg38UCSC Ensembl
Outerchr5:141256601..141258400hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg381800
hg191800
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2997851
SamplesBILGI_BIOE
Known GenesPCDH1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv950418
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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