A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547668



Internal ID15988391
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:145687602..145800588hg38UCSC Ensembl
Innerchr1:145634490..145747463hg19UCSC Ensembl
Innerchr1:144345847..144458820hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38112987
hg19112974
hg18112974
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv533n54
Supporting Variantsnssv723078
Samples
Known GenesCD160, LOC100288142, NBPF10, PDZK1, RNF115
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547668
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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