A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547719



Internal ID15988442
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:143544453..143905676hg38UCSC Ensembl
Innerchr1:149039120..149400252hg19UCSC Ensembl
Innerchr1:147305744..147666876hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38361224
hg19361133
hg18361133
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv543n54
Supporting Variantsnssv723249, nssv723250
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)nsv547719
Frequency
Sample Size17421
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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