A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1006012



Internal ID18748543
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:87074972..87725136hg38UCSC Ensembl
Innerchr2:87302095..88024655hg19UCSC Ensembl
Innerchr2:87155606..87805770hg18UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38650165
hg19722561
hg18650165
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3888n100
Supporting Variantsnssv3582183
Samples
Known GenesLINC00152, LOC285074, MIR4435-1, MIR4435-2, MIR4771-1, MIR4771-2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1006012
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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