A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547752



Internal ID16335161
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:143550435..143893539hg38UCSC Ensembl
Innerchr1:149045105..149388118hg19UCSC Ensembl
Innerchr1:147311729..147654742hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38343105
hg19343014
hg18343014
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv545n54
Supporting Variantsnssv723345
Samples
Known GenesFCGR1C, LOC101929780, LOC388692, NBPF23
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547752
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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