A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv952247



Internal ID16954434
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:101543464..101564963hg38UCSC Ensembl
Outerchr14:102009801..102031300hg19UCSC Ensembl
Cytoband14q32.31
Allele length
AssemblyAllele length
hg3821500
hg1921500
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2998407
SamplesBILGI_BIOE
Known GenesDIO3, DIO3OS, MIR1247
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv952247
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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