A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1006743



Internal ID19095961
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:87146758..87919212hg38UCSC Ensembl
Innerchr2:87373881..88218731hg19UCSC Ensembl
Innerchr2:87227392..87999846hg18UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38772455
hg19844851
hg18772455
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3893n100
Supporting Variantsnssv3582337
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)nsv1006743
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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