A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3998041



Internal ID18843030
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:243586344..243586408hg38UCSC Ensembl
Outerchr1:243749646..243749710hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3865
hg1965
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1153004
Supporting Variants
SamplesKWB1
Known GenesAKT3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv3998041
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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