A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1028514



Internal ID19117732
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:55138889..55153474hg38UCSC Ensembl
Innerchr7:55206582..55221167hg19UCSC Ensembl
Innerchr7:55174076..55188661hg18UCSC Ensembl
Cytoband7p11.2
Allele length
AssemblyAllele length
hg3814586
hg1914586
hg1814586
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6359n100
Supporting Variantsnssv3661345, nssv3661344, nssv3661342, nssv3661341, nssv3661343, nssv3661340
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)nsv1028514
Frequency
Sample Size11257
Observed Gain3
Observed Loss3
Observed Complex0
Frequencyn/a


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