A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547095



Internal ID15987818
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103613322..103630590hg38UCSC Ensembl
Innerchr1:104155944..104173212hg19UCSC Ensembl
Innerchr1:103957467..103974735hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3817269
hg1917269
hg1817269
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv418n54
Supporting Variantsnssv720049, nssv720048
Samples
Known GenesAMY2A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547095
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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