A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1006323



Internal ID18748854
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:208363948..208382659hg38UCSC Ensembl
Innerchr2:209228673..209247384hg19UCSC Ensembl
Innerchr2:208936918..208955629hg18UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg3818712
hg1918712
hg1818712
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4160n100
Supporting Variantsnssv3585600
Samples
Known GenesPTH2R
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1006323
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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