A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546850



Internal ID15987573
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:94013912..94019721hg38UCSC Ensembl
Innerchr1:94479468..94485277hg19UCSC Ensembl
Innerchr1:94252056..94257865hg18UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg385810
hg195810
hg185810
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv719614
Samples
Known GenesABCA4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546850
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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