A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548340



Internal ID16335749
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:179975766..180098853hg38UCSC Ensembl
Innerchr1:179944901..180067988hg19UCSC Ensembl
Innerchr1:178211524..178334611hg18UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg38123088
hg19123088
hg18123088
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv656n54
Supporting Variantsnssv1173927
SamplesHGDP00766
Known GenesCEP350
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548340
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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