A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1003142



Internal ID19092359
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:130005307..130136424hg38UCSC Ensembl
Innerchr2:130762880..130893997hg19UCSC Ensembl
Innerchr2:130479350..130610467hg18UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg38131118
hg19131118
hg18131118
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4072n100
Supporting Variantsnssv3580819
Samples
Known GenesFAR2P1, MED15P9, POTEF
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1003142
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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