A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv952407



Internal ID16954594
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:5628102..5631001hg38UCSC Ensembl
Outerchr18:5628101..5631000hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg382900
hg192900
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2998840
SamplesBILGI_BIOE
Known GenesEPB41L3
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv952407
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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