A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv953128



Internal ID17302002
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:55824166..55826965hg38UCSC Ensembl
Outerchr2:56051301..56054100hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg382800
hg192800
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3001731
SamplesBILGI_BIOE
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv953128
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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