A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4000963



Internal ID18842000
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:7057617..7057691hg38UCSC Ensembl
Outerchr16:7107618..7107692hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3875
hg1975
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1149659
Supporting Variants
SamplesKWB1
Known GenesRBFOX1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv4000963
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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