A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546194



Internal ID16333603
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:49097909..49583818hg38UCSC Ensembl
Innerchr1:49563581..50049490hg19UCSC Ensembl
Innerchr1:49336168..49822077hg18UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg38485910
hg19485910
hg18485910
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv712964
Samples
Known GenesAGBL4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546194
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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