A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv834544



Internal ID6160268
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:220263747..220336206hg19UCSC Ensembl
Outerchr2:219971991..220044450hg18UCSC Ensembl
Outerchr2:220089252..220161711hg17UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
hg17n/a
Variant TypeCNV Loss
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsnssv1442556, nssv1442557
Samples
Known GenesDES, SPEG
Method
Analysis
PlatformSMRT Whole Genome Tile Path BAC CGH Array
Comments
ReferenceWong_et_al_2007
Pubmed ID17160897
Accession Number(s)nsv834544
Frequency
Sample Size95
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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