A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv954047



Internal ID17302921
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:46028362..46032161hg38UCSC Ensembl
Outerchr20:44657001..44660800hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg383800
hg193800
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2999985
SamplesBILGI_BIOE
Known GenesSLC12A5
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv954047
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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