A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1014548



Internal ID19103766
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 StatusM
Merged Variants
Supporting Variantsnssv3586906
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)nsv1014548
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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