A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1007006



Internal ID18749537
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:234254426..234483126hg38UCSC Ensembl
Innerchr1:234390172..234618872hg19UCSC Ensembl
Innerchr1:232456795..232685495hg18UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg38228701
hg19228701
hg18228701
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv585n100
Supporting Variantsnssv3491502
Samples
Known GenesCOA6, MIR4671, SLC35F3, TARBP1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1007006
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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