A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1010646



Internal ID19099863
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:87256717..87661069hg38UCSC Ensembl
Innerchr2:87483840..87960588hg19UCSC Ensembl
Innerchr2:87337351..87741703hg18UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38404353
hg19476749
hg18404353
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3892n100
Supporting Variantsnssv3582405, nssv3582404, nssv3582401, nssv3582402, nssv3728780, nssv3582399, nssv3582400, nssv3582403
Samples
Known GenesLINC00152, MIR4435-1, MIR4435-2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1010646
Frequency
Sample Size11257
Observed Gain1
Observed Loss7
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer