A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549462



Internal ID15990185
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:242037945..242392647hg38UCSC Ensembl
Innerchr1:242201247..242555949hg19UCSC Ensembl
Innerchr1:240267870..240622572hg18UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38354703
hg19354703
hg18354703
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1174077
SamplesHGDP00950
Known GenesPLD5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv549462
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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