A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547698



Internal ID15988421
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:143538619..143876423hg38UCSC Ensembl
Innerchr1:149029447..149370974hg19UCSC Ensembl
Innerchr1:147296071..147637598hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38337805
hg19341528
hg18341528
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv536n54
Supporting Variantsnssv723125
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)nsv547698
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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