A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1002941



Internal ID18745473
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:241703438..242147293hg38UCSC Ensembl
Innerchr2:242642853..243089444hg19UCSC Ensembl
Innerchr2:242291526..242738117hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38443856
hg19446592
hg18446592
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3587002
Samples
Known GenesCXXC11, D2HGDH, GAL3ST2, ING5, LOC728323, NEU4, PDCD1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1002941
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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