A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547015



Internal ID16334424
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103597390..103755245hg38UCSC Ensembl
Innerchr1:104140012..104297867hg19UCSC Ensembl
Innerchr1:103941535..104099390hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38157856
hg19157856
hg18157856
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv401n54
Supporting Variantsnssv719831, nssv719835, nssv719825, nssv719830, nssv719841, nssv719819, nssv719832, nssv719827, nssv719818, nssv719829, nssv719826, nssv719823, nssv719821, nssv719837, nssv719824, nssv719838, nssv719815, nssv719840, nssv719842, nssv719814, nssv719820, nssv719836, nssv719834, nssv719822, nssv719833, nssv719839, nssv719843, nssv719828, nssv719817, nssv719816
Samples
Known GenesAMY1A, AMY1B, AMY1C, AMY2A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547015
Frequency
Sample Size17421
Observed Gain0
Observed Loss30
Observed Complex0
Frequencyn/a


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