A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1010548



Internal ID19099765
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:87110834..87661069hg38UCSC Ensembl
Innerchr2:87337957..87960588hg19UCSC Ensembl
Innerchr2:87191468..87741703hg18UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38550236
hg19622632
hg18550236
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3892n100
Supporting Variantsnssv3582218, nssv3582217, nssv3582210, nssv3728723, nssv3582214, nssv3728722, nssv3728724, nssv3582212, nssv3582211, nssv3582216, nssv3582213, nssv3582215
Samples
Known GenesLINC00152, 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)nsv1010548
Frequency
Sample Size11257
Observed Gain10
Observed Loss2
Observed Complex0
Frequencyn/a


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