A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1006028



Internal ID18748559
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:216095454..216259203hg38UCSC Ensembl
Innerchr1:216268796..216432545hg19UCSC Ensembl
Innerchr1:214335419..214499168hg18UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38163750
hg19163750
hg18163750
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3502014
Samples
Known GenesUSH2A
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1006028
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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