A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1019750



Internal ID19108968
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:55139754..55153962hg38UCSC Ensembl
Innerchr7:55207447..55221655hg19UCSC Ensembl
Innerchr7:55174941..55189149hg18UCSC Ensembl
Cytoband7p11.2
Allele length
AssemblyAllele length
hg3814209
hg1914209
hg1814209
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6359n100
Supporting Variantsnssv3661386, nssv3661384, nssv3661382, nssv3661385, nssv3661383
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)nsv1019750
Frequency
Sample Size11257
Observed Gain1
Observed Loss4
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer