A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546700



Internal ID15987423
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:84869105..85128783hg38UCSC Ensembl
Innerchr1:85334788..85594466hg19UCSC Ensembl
Innerchr1:85107376..85367054hg18UCSC Ensembl
Cytoband1p22.3
Allele length
AssemblyAllele length
hg38259679
hg19259679
hg18259679
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1173046
SamplesHGDP01029
Known GenesLPAR3, MCOLN2, MCOLN3, WDR63
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546700
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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