A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1024580



Internal ID18767112
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:55138889..55151210hg38UCSC Ensembl
Innerchr7:55206582..55218903hg19UCSC Ensembl
Innerchr7:55174076..55186397hg18UCSC Ensembl
Cytoband7p11.2
Allele length
AssemblyAllele length
hg3812322
hg1912322
hg1812322
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6356n100
Supporting Variantsnssv3661338, nssv3661339
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)nsv1024580
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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