A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517254



Internal ID6015136
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:103567525..103567874hg19UCSC Ensembl
Innerchr7:103354761..103355110hg18UCSC Ensembl
Innerchr7:103161476..103161825hg17UCSC Ensembl
Cytoband7q22.1
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 Variantsnssv664696, nssv654126
Samples
Known GenesRELN
Method
AnalysisMerged-level CNV regions
PlatformIllumina HumanHap550 Genotyping BeadChip v3
Comments
ReferenceShaikh et al 2009
Pubmed ID19592680
Accession Number(s)nsv517254
Frequency
Sample Size2026
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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