A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1030035



Internal ID19119254
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:10988192..11216462hg38UCSC Ensembl
Innerchr7:11027819..11256089hg19UCSC Ensembl
Innerchr7:10994344..11222614hg18UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg38228271
hg19228271
hg18228271
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3642918
Samples
Known GenesPHF14
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1030035
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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