A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv575048



Internal ID16362457
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:42276044..42276943hg38UCSC Ensembl
Innerchr17:40428062..40428961hg19UCSC Ensembl
Innerchr17:37681588..37682487hg18UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg38900
hg19900
hg18900
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5599n54
Supporting Variantsnssv871860, nssv871857, nssv871861, nssv871858, nssv871859
Samples
Known GenesSTAT5B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv575048
Frequency
Sample Size17421
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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