A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv605448



Internal ID16392857
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:167987533..168197519hg38UCSC Ensembl
Innerchr6:168388213..168598199hg19UCSC Ensembl
Innerchr6:168131062..168341048hg18UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38209987
hg19209987
hg18209987
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv11064n54
Supporting Variantsnssv1077287
Samples
Known GenesFRMD1, KIF25, KIF25-AS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv605448
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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