A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv950219



Internal ID17299093
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:54723208..54738707hg38UCSC Ensembl
Outerchr7:54790901..54806400hg19UCSC Ensembl
Cytoband7p11.2
Allele length
AssemblyAllele length
hg3815500
hg1915500
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2998449
SamplesBILGI_BIOE
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv950219
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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