A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546079



Internal ID16333488
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:40556517..40566387hg38UCSC Ensembl
Innerchr1:41022189..41032059hg19UCSC Ensembl
Innerchr1:40794776..40804646hg18UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg389871
hg199871
hg189871
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv712615
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546079
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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