A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547635



Internal ID16335044
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:121506147..121595179hg38UCSC Ensembl
Innerchr1:121247945..121336977hg19UCSC Ensembl
Innerchr1:120949468..121038500hg18UCSC Ensembl
Cytoband1p11.2
Allele length
AssemblyAllele length
hg3889033
hg1989033
hg1889033
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv723031
Samples
Known GenesEMBP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547635
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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