A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1034313



Internal ID18776847
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:55140383..55153962hg38UCSC Ensembl
Innerchr7:55208076..55221655hg19UCSC Ensembl
Innerchr7:55175570..55189149hg18UCSC Ensembl
Cytoband7p11.2
Allele length
AssemblyAllele length
hg3813580
hg1913580
hg1813580
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6356n100
Supporting Variantsnssv3661394
Samples
Known GenesEGFR
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1034313
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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