A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546961



Internal ID15987684
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103563013..103719086hg38UCSC Ensembl
Innerchr1:104105635..104261708hg19UCSC Ensembl
Innerchr1:103907158..104063231hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38156074
hg19156074
hg18156074
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv392n54
Supporting Variantsnssv719743, nssv719744, nssv719742
Samples
Known GenesACTG1P4, AMY1A, AMY1B, AMY1C, AMY2A, AMY2B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546961
Frequency
Sample Size17421
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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