A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547330



Internal ID15988053
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:107006123..107375697hg38UCSC Ensembl
Innerchr1:107548745..107918319hg19UCSC Ensembl
Innerchr1:107350268..107719842hg18UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg38369575
hg19369575
hg18369575
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv720717
Samples
Known GenesNTNG1, PRMT6
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547330
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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