A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546779



Internal ID16334188
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:88791695..88894106hg38UCSC Ensembl
Innerchr1:89257378..89359789hg19UCSC Ensembl
Innerchr1:89029966..89132377hg18UCSC Ensembl
Cytoband1p22.2
Allele length
AssemblyAllele length
hg38102412
hg19102412
hg18102412
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv360n54
Supporting Variantsnssv1173051
SamplesHGDP00995
Known GenesGTF2B, PKN2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546779
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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