A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1072348



Internal ID15578848
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:118401426..118744202hg38UCSC Ensembl
Innerchr6:118722589..119065365hg19UCSC Ensembl
Innerchr6:118829282..119172058hg18UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg38342777
hg19342777
hg18342777
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv604556
Supporting Variants
Samples
Known GenesBRD7P3, CEP85L, PLN
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1072348
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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