A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546946



Internal ID16334355
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103525452..103526378hg38UCSC Ensembl
Innerchr1:104068074..104069000hg19UCSC Ensembl
Innerchr1:103840662..103841588hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38927
hg19927
hg18927
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv391n54
Supporting Variantsnssv719720
Samples
Known GenesLOC101928436, RNPC3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546946
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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