A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv997984



Internal ID18810834
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:241723206..242001132hg38UCSC Ensembl
Innerchr2:242662621..242943283hg19UCSC Ensembl
Innerchr2:242311294..242591956hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38277927
hg19280663
hg18280663
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3730130
Samples
Known GenesCXXC11, D2HGDH, GAL3ST2, ING5, 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)nsv997984
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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