A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1000995



Internal ID18743526
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:12308425..12594756hg38UCSC Ensembl
Innerchr3:12349924..12636255hg19UCSC Ensembl
Innerchr3:12324924..12611255hg18UCSC Ensembl
Cytoband3p25.1
Allele length
AssemblyAllele length
hg38286332
hg19286332
hg18286332
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3591969
Samples
Known GenesC3orf83, MKRN2, PPARG, RAF1, TSEN2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1000995
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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