A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547305



Internal ID16334714
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:105483286..105629866hg38UCSC Ensembl
Innerchr1:106025908..106172488hg19UCSC Ensembl
Innerchr1:105827431..105974011hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38146581
hg19146581
hg18146581
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv462n54
Supporting Variantsnssv1173091
Samples1780862202_A
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547305
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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