A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3001523



Internal ID17294475
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:12449854..12455950hg38UCSC Ensembl
Outerchr17:12353171..12359267hg19UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg386097
hg196097
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv955408
Supporting Variants
SamplesBILGI_BIOE
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv3001523
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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