A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3000077



Internal ID16946343
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:31410280..31410979hg38UCSC Ensembl
Outerchr16:31421601..31422300hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38700
hg19700
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv953804
Supporting Variants
SamplesBILGI_BIOE
Known GenesITGAD
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv3000077
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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