A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4003371



Internal ID18846919
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:6950344..6950400hg38UCSC Ensembl
Outerchr16:7000345..7000401hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1154091
Supporting Variants
SamplesKWB1
Known GenesRBFOX1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv4003371
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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