A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1030676



Internal ID18773207
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:54583600..55151489hg38UCSC Ensembl
Innerchr7:54651293..55219182hg19UCSC Ensembl
Innerchr7:54618787..55186676hg18UCSC Ensembl
Cytoband7p11.2
Allele length
AssemblyAllele length
hg38567890
hg19567890
hg18567890
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3661324
Samples
Known GenesEGFR, SEC61G
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1030676
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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