A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1028125



Internal ID18770656
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:16489535..16807601hg38UCSC Ensembl
Innerchr7:16529160..16847225hg19UCSC Ensembl
Innerchr7:16495685..16813750hg18UCSC Ensembl
Cytoband7p21.1
Allele length
AssemblyAllele length
hg38318067
hg19318066
hg18318066
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3643201
Samples
Known GenesAGR2, ANKMY2, BZW2, LRRC72, TSPAN13
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1028125
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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