A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547934



Internal ID16335343
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:153702228..153720269hg38UCSC Ensembl
Innerchr1:153674704..153692745hg19UCSC Ensembl
Innerchr1:151941328..151959369hg18UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg3818042
hg1918042
hg1818042
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv583n54
Supporting Variantsnssv724850, nssv724851, nssv724849, nssv724852, nssv724853
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547934
Frequency
Sample Size17421
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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