A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546309



Internal ID16333718
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:58256638..58276478hg38UCSC Ensembl
Innerchr1:58722310..58742150hg19UCSC Ensembl
Innerchr1:58494898..58514738hg18UCSC Ensembl
Cytoband1p32.2
Allele length
AssemblyAllele length
hg3819841
hg1919841
hg1819841
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv713487
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546309
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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