A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548246



Internal ID16335655
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:176074661..176167137hg38UCSC Ensembl
Innerchr1:176043797..176136273hg19UCSC Ensembl
Innerchr1:174310420..174402896hg18UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg3892477
hg1992477
hg1892477
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv729108
Samples
Known GenesRFWD2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548246
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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