A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1028614



Internal ID19117832
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:11472057..11557307hg38UCSC Ensembl
Innerchr7:11511684..11596934hg19UCSC Ensembl
Innerchr7:11478209..11563459hg18UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg3885251
hg1985251
hg1885251
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3642933
Samples
Known GenesTHSD7A
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1028614
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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