A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1004867



Internal ID19094084
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:87110834..87936285hg38UCSC Ensembl
Innerchr2:87337957..88235804hg19UCSC Ensembl
Innerchr2:87191468..88016919hg18UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38825452
hg19897848
hg18825452
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3893n100
Supporting Variantsnssv3582219
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)nsv1004867
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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