A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3996030



Internal ID18845102
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:77284050..77284112hg38UCSC Ensembl
Outerchr17:75280132..75280194hg19UCSC Ensembl
Cytoband17q25.2
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1150551
Supporting Variants
SamplesKWB1
Known GenesSEPT9
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv3996030
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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