A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1002218



Internal ID18744750
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:75172460..75653324hg38UCSC Ensembl
Innerchr3:75221611..75702475hg19UCSC Ensembl
Innerchr3:75304301..75785165hg18UCSC Ensembl
Cytoband3p12.3
Allele length
AssemblyAllele length
hg38480865
hg19480865
hg18480865
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3594164
Samples
Known GenesFAM86DP, MIR1324, MIR4444-1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1002218
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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