A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4002448



Internal ID18840755
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:1156890..1156956hg38UCSC Ensembl
Outerchr19:1156889..1156955hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3867
hg1967
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1153793
Supporting Variants
SamplesKWB1
Known GenesSBNO2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv4002448
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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