A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546341



Internal ID15987064
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:59583126..59583847hg38UCSC Ensembl
Innerchr1:60048798..60049519hg19UCSC Ensembl
Innerchr1:59821386..59822107hg18UCSC Ensembl
Cytoband1p32.1
Allele length
AssemblyAllele length
hg38722
hg19722
hg18722
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv286n54
Supporting Variantsnssv715435, nssv715434
Samples
Known GenesFGGY
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546341
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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