A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546067



Internal ID16333476
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:40547588..40561168hg38UCSC Ensembl
Innerchr1:41013260..41026840hg19UCSC Ensembl
Innerchr1:40785847..40799427hg18UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg3813581
hg1913581
hg1813581
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv243n54
Supporting Variantsnssv712571
Samples
Known GenesZNF684
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546067
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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