A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516302



Internal ID6014854
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:33320601..33380108hg19UCSC Ensembl
Innerchr1:33093188..33152695hg18UCSC Ensembl
Innerchr1:32989694..33049201hg17UCSC Ensembl
Cytoband1p35.1
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 Variantsnssv670847, nssv661821, nssv668150, nssv668935, nssv667416, nssv699367, nssv672465, nssv687923, nssv696432
Samples
Known GenesFNDC5, HPCA, S100PBP, TMEM54
Method
AnalysisMerged-level CNV regions
PlatformIllumina HumanHap550 Genotyping BeadChip v3
Comments
ReferenceShaikh et al 2009
Pubmed ID19592680
Accession Number(s)nsv516302
Frequency
Sample Size2026
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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