A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2999983



Internal ID16946249
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:45818762..45823261hg38UCSC Ensembl
Outerchr20:44447401..44451900hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg384500
hg194500
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv954045
Supporting Variants
SamplesBILGI_BIOE
Known GenesTNNC2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2999983
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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