A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1002059



Internal ID19091276
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:87094919..87861756hg38UCSC Ensembl
Innerchr2:87322042..88161275hg19UCSC Ensembl
Innerchr2:87175553..87942390hg18UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38766838
hg19839234
hg18766838
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3893n100
Supporting Variantsnssv3582203, nssv3582202
Samples
Known GenesLINC00152, MIR4435-1, MIR4435-2, MIR4771-1, MIR4771-2, PLGLB1, PLGLB2, RGPD1, RGPD2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1002059
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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