A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1002306



Internal ID18744838
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:232581600..232624121hg38UCSC Ensembl
Innerchr2:233446310..233488831hg19UCSC Ensembl
Innerchr2:233154554..233197075hg18UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3842522
hg1942522
hg1842522
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3586903
Samples
Known GenesEFHD1, EIF4E2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1002306
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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