A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv607480



Internal ID16048203
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:74102784..74237706hg38UCSC Ensembl
Innerchr7:73517114..73652036hg19UCSC Ensembl
Innerchr7:73155050..73289972hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38134923
hg19134923
hg18134923
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1155855
SamplesHGDP00791
Known GenesEIF4H, LAT2, LIMK1, MIR590, RFC2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv607480
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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