A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv591524



Internal ID16032247
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:126614957..126669032hg38UCSC Ensembl
Innerchr3:126333800..126387875hg19UCSC Ensembl
Innerchr3:127816490..127870565hg18UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg3854076
hg1954076
hg1854076
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1152274
SamplesNINDS_4
Known GenesNUP210P1, TXNRD3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv591524
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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