A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546955



Internal ID15987678
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103563013..103618188hg38UCSC Ensembl
Innerchr1:104105635..104160810hg19UCSC Ensembl
Innerchr1:103907158..103962333hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3855176
hg1955176
hg1855176
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv719735
Samples
Known GenesACTG1P4, AMY2A, AMY2B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546955
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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