A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv604125



Internal ID16044848
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:89751706..90189842hg38UCSC Ensembl
Innerchr6:90461425..90899561hg19UCSC Ensembl
Innerchr6:90518146..90956282hg18UCSC Ensembl
Cytoband6q15
Allele length
AssemblyAllele length
hg38438137
hg19438137
hg18438137
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1068392
Samples
Known GenesBACH2, CASP8AP2, GJA10, MDN1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv604125
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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