A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4001566



Internal ID18847139
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:39092541..39092603hg38UCSC Ensembl
Outerchr17:37248794..37248856hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1148052
Supporting Variants
SamplesKWB1
Known GenesPLXDC1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv4001566
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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