A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv833614



Internal ID6159338
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:27486427..27675080hg19UCSC Ensembl
Outerchr2:27339931..27528584hg18UCSC Ensembl
Outerchr2:27398078..27586731hg17UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
hg17n/a
Variant TypeCNV Gain
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv1441814
Samples
Known GenesDNAJC5G, EIF2B4, FTH1P3, GTF3C2, IFT172, KRTCAP3, LOC100505624, MPV17, NRBP1, PPM1G, SNX17, TRIM54, UCN, ZNF513
Method
Analysis
PlatformSMRT Whole Genome Tile Path BAC CGH Array
Comments
ReferenceWong_et_al_2007
Pubmed ID17160897
Accession Number(s)nsv833614
Frequency
Sample Size95
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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