A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv607029



Internal ID16047752
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:54579095..55086688hg38UCSC Ensembl
Innerchr7:54646788..55154381hg19UCSC Ensembl
Innerchr7:54614282..55121875hg18UCSC Ensembl
Cytoband7p11.2
Allele length
AssemblyAllele length
hg38507594
hg19507594
hg18507594
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1084677
Samples
Known GenesEGFR, SEC61G
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv607029
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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