A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv575041



Internal ID16015764
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:41768968..41786242hg38UCSC Ensembl
Innerchr17:39925220..39942494hg19UCSC Ensembl
Innerchr17:37178746..37196020hg18UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg3817275
hg1917275
hg1817275
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv871844
Samples
Known GenesJUP
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv575041
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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