A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv834517



Internal ID6160241
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:209006797..209170269hg19UCSC Ensembl
Outerchr2:208715042..208878514hg18UCSC Ensembl
Outerchr2:208832303..208995775hg17UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
hg17n/a
Variant TypeCNV Loss
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv1442496
Samples
Known GenesC2orf80, CRYGA, CRYGB, IDH1, LOC100507443, PIKFYVE
Method
Analysis
PlatformSMRT Whole Genome Tile Path BAC CGH Array
Comments
ReferenceWong_et_al_2007
Pubmed ID17160897
Accession Number(s)nsv834517
Frequency
Sample Size95
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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