A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv520958



Internal ID6013616
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:220269475..220430203hg19UCSC Ensembl
Innerchr2:219977719..220138447hg18UCSC Ensembl
Innerchr2:220094980..220255708hg17UCSC Ensembl
Cytoband2q35
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 Variantsnssv702977, nssv678756, nssv703284, nssv682266
Samples
Known GenesACCN4, CHPF, DES, GMPPA, MIR3132, OBSL1, SPEG, TMEM198
Method
AnalysisMerged-level CNV regions
PlatformIllumina HumanHap550 Genotyping BeadChip v3
Comments
ReferenceShaikh et al 2009
Pubmed ID19592680
Accession Number(s)nsv520958
Frequency
Sample Size2026
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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