A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv515720



Internal ID6015234
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:30081715..30163526hg19UCSC Ensembl
Innerchr22:28411715..28493526hg18UCSC Ensembl
Innerchr22:28406269..28488080hg17UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
hg17n/a
Variant TypeCNV Gain+Loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsnssv655407, nssv657818, nssv655367, nssv664554, nssv697956, nssv689899, nssv654961, nssv701308
Samples
Known GenesCABP7, NF2, UQCR10, ZMAT5
Method
AnalysisMerged-level CNV regions
PlatformIllumina HumanHap550 Genotyping BeadChip v3
Comments
ReferenceShaikh et al 2009
Pubmed ID19592680
Accession Number(s)nsv515720
Frequency
Sample Size2026
Observed Gain1
Observed Loss7
Observed Complex0
Frequencyn/a


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