A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547718



Internal ID15988441
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:143544453..143882091hg38UCSC Ensembl
Innerchr1:149039120..149376652hg19UCSC Ensembl
Innerchr1:147305744..147643276hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38337639
hg19337533
hg18337533
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv543n54
Supporting Variantsnssv723248, nssv723247
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)nsv547718
Frequency
Sample Size17421
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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