A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv575046



Internal ID16362455
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:42276044..42276876hg38UCSC Ensembl
Innerchr17:40428062..40428894hg19UCSC Ensembl
Innerchr17:37681588..37682420hg18UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg38833
hg19833
hg18833
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv871851, nssv871853, nssv871852, nssv871855, nssv871854
Samples
Known GenesSTAT5B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv575046
Frequency
Sample Size17421
Observed Gain4
Observed Loss1
Observed Complex0
Frequencyn/a


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