A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv545524



Internal ID16332933
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:12852235..12859579hg38UCSC Ensembl
Innerchr1:12912088..12919434hg19UCSC Ensembl
Innerchr1:12834675..12842021hg18UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg387345
hg197347
hg187347
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv133n54
Supporting Variantsnssv710198, nssv710199
Samples
Known GenesPRAMEF2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv545524
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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