A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv737460



Internal ID15684730
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:228139958..228176049hg38UCSC Ensembl
Innerchr1:228327659..228363750hg19UCSC Ensembl
Innerchr1:226394282..226430373hg18UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg3836092
hg1936092
hg1836092
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv549288
Supporting Variants
Samples
Known GenesGJC2, GUK1, IBA57, IBA57-AS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv737460
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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