A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548247



Internal ID16335656
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:176264796..176307916hg38UCSC Ensembl
Innerchr1:176233932..176277052hg19UCSC Ensembl
Innerchr1:174500555..174543675hg18UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg3843121
hg1943121
hg1843121
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv729109, nssv729110, nssv729111, nssv729112
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548247
Frequency
Sample Size17421
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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