A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv607654



Internal ID16048377
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:77908647..78385012hg38UCSC Ensembl
Innerchr7:77537964..78014329hg19UCSC Ensembl
Innerchr7:77375900..77852265hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38476366
hg19476366
hg18476366
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1088515
Samples
Known GenesMAGI2, MIR548AU, PHTF2, RPL13AP17
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv607654
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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