A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv832320



Internal ID6158044
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:6224132..6428122hg19UCSC Ensembl
Outerchr12:6094393..6298383hg18UCSC Ensembl
Outerchr12:6094393..6298383hg17UCSC Ensembl
Cytoband12p13.31
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 Variantsnssv1449578
Samples
Known GenesCD9, PLEKHG6, VWF
Method
Analysis
PlatformSMRT Whole Genome Tile Path BAC CGH Array
Comments
ReferenceWong_et_al_2007
Pubmed ID17160897
Accession Number(s)nsv832320
Frequency
Sample Size95
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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