A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3000048



Internal ID17293000
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:19707579..19714478hg38UCSC Ensembl
Outerchr16:19718901..19725800hg19UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg386900
hg196900
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv952946
Supporting Variants
SamplesBILGI_BIOE
Known GenesKNOP1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv3000048
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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