A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546786



Internal ID15987509
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:89010744..89012749hg38UCSC Ensembl
Innerchr1:89476427..89478432hg19UCSC Ensembl
Innerchr1:89249015..89251020hg18UCSC Ensembl
Cytoband1p22.2
Allele length
AssemblyAllele length
hg382006
hg192006
hg182006
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv718857, nssv718849, nssv718840, nssv718841, nssv718850, nssv718856, nssv718844, nssv718845, nssv718847, nssv718843, nssv718846, nssv718853, nssv718842, nssv718852, nssv718848, nssv718858, nssv718851, nssv718854, nssv718855
Samples
Known GenesGBP3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546786
Frequency
Sample Size17421
Observed Gain0
Observed Loss19
Observed Complex0
Frequencyn/a


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