A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1007029



Internal ID18749560
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:232868642..232895809hg38UCSC Ensembl
Innerchr2:233733352..233760519hg19UCSC Ensembl
Innerchr2:233441596..233468763hg18UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3827168
hg1927168
hg1827168
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4188n100
Supporting Variantsnssv3586905
Samples
Known GenesC2orf82, NGEF
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1007029
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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