A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546472



Internal ID15987195
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:70967301..71075320hg38UCSC Ensembl
Innerchr1:71432984..71541003hg19UCSC Ensembl
Innerchr1:71205572..71313591hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38108020
hg19108020
hg18108020
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv716168
Samples
Known GenesMIR186, PTGER3, ZRANB2, ZRANB2-AS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546472
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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