A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547842



Internal ID15988565
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:144588696..144607689hg38UCSC Ensembl
Innerchr1:149548694..149567957hg19UCSC Ensembl
Innerchr1:147815318..147834581hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3818994
hg1919264
hg1819264
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv723489, nssv723492, nssv723493, nssv723494, nssv723490, nssv723491
Samples
Known GenesPPIAL4A, PPIAL4B, PPIAL4C
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547842
Frequency
Sample Size17421
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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