A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3586906



Internal ID18885187
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:232913149..232951308hg38UCSC Ensembl
Innerchr2:233777859..233816018hg19UCSC Ensembl
Innerchr2:233486103..233524262hg18UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3838160
hg1938160
hg1838160
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1014548
Supporting Variants
Samples
Known GenesNGEF
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3586906
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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