A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3000134



Internal ID17293086
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:47851690..47856689hg38UCSC Ensembl
Outerchr16:47885601..47890600hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg385000
hg195000
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv952667
Supporting Variants
SamplesBILGI_BIOE
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv3000134
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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