A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4003675



Internal ID18847158
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:106709699..106709757hg38UCSC Ensembl
Outerchr11:106580425..106580483hg19UCSC Ensembl
Cytoband11q22.3
Allele length
AssemblyAllele length
hg3859
hg1959
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1150373
Supporting Variants
SamplesKWB1
Known GenesGUCY1A2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv4003675
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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