A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv575047



Internal ID16362456
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:42276044..42276936hg38UCSC Ensembl
Innerchr17:40428062..40428954hg19UCSC Ensembl
Innerchr17:37681588..37682480hg18UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg38893
hg19893
hg18893
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5599n54
Supporting Variantsnssv871856
Samples
Known GenesSTAT5B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv575047
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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