A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547663



Internal ID15988386
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:145698627..145809105hg38UCSC Ensembl
Innerchr1:145625979..145736438hg19UCSC Ensembl
Innerchr1:144337336..144447795hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38110479
hg19110460
hg18110460
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv533n54
Supporting Variantsnssv723068
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)nsv547663
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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