A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517697



Internal ID6013524
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:180607883..180690937hg19UCSC Ensembl
Innerchr5:180540489..180623543hg18UCSC Ensembl
Innerchr5:180540489..180623543hg17UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
hg17n/a
Variant TypeCNV Loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsnssv663548, nssv652878, nssv671379, nssv702615, nssv682664, nssv674572, nssv675238, nssv674573, nssv675239
Samples
Known GenesGNB2L1, MIR4638, SNORD95, SNORD96A, TRIM41, TRIM52, TRIM7
Method
AnalysisMerged-level CNV regions
PlatformIllumina HumanHap550 Genotyping BeadChip v3
Comments
ReferenceShaikh et al 2009
Pubmed ID19592680
Accession Number(s)nsv517697
Frequency
Sample Size2026
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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