A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547717



Internal ID16335126
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:143544453..143876423hg38UCSC Ensembl
Innerchr1:149039120..149370974hg19UCSC Ensembl
Innerchr1:147305744..147637598hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38331971
hg19331855
hg18331855
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv545n54
Supporting Variantsnssv723245, nssv723244, nssv723246
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)nsv547717
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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