A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv907619



Internal ID6269546
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:4796286..4938201hg19UCSC Ensembl
Outerchr17:4778487..4943176hg19UCSC Ensembl
Innerchr17:4737062..4878925hg18UCSC Ensembl
Outerchr17:4724664..4883900hg18UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Loss
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsnssv1546932, nssv1530874
SamplesMS10311, MS17208
Known GenesC17orf107, CAMTA2, CHRNE, ENO3, GP1BA, GPR172B, INCA1, KIF1C, MINK1, PFN1, RNF167, SLC25A11, SPAG7
Method
Analysis
PlatformIllumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3
Comments
ReferenceXu_et_al_2011
Pubmed ID21882294
Accession Number(s)nsv907619
Frequency
Sample Size6533
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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