A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv483083



Internal ID15582196
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46654819..46812153hg38UCSC Ensembl
Innerchr17:44732185..44889519hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38157335
hg19157335
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2996531, nssv2996413, nssv2996463, nssv2996345, nssv2996212
Samples
Known GenesNSF, WNT3
MethodBAC aCGH
Analysis
PlatformSpectral Genomics 2600 BAC array
Comments
ReferenceIafrate_et_al_2004
Pubmed ID15286789
Accession Number(s)nsv483083
Frequency
Sample Size39
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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