A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1006733



Internal ID18749264
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:241723206..241841232hg38UCSC Ensembl
Innerchr2:242662621..242783384hg19UCSC Ensembl
Innerchr2:242311294..242432057hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38118027
hg19120764
hg18120764
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3587003
Samples
Known GenesD2HGDH, GAL3ST2, ING5, NEU4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1006733
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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