A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547700



Internal ID15988423
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:143538619..143930372hg38UCSC Ensembl
Innerchr1:149029447..149424944hg19UCSC Ensembl
Innerchr1:147296071..147691568hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38391754
hg19395498
hg18395498
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv536n54
Supporting Variantsnssv723130, nssv723129, nssv723131
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)nsv547700
Frequency
Sample Size17421
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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