A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3000002



Internal ID17292954
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:57331145..57348144hg38UCSC Ensembl
Outerchr20:55906201..55923200hg19UCSC Ensembl
Cytoband20q13.31
Allele length
AssemblyAllele length
hg3817000
hg1917000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv955139
Supporting Variants
SamplesBILGI_BIOE
Known GenesMIR5095, SPO11
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv3000002
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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