A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv604852



Internal ID16392261
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:150827705..150875534hg38UCSC Ensembl
Innerchr6:151148841..151196670hg19UCSC Ensembl
Innerchr6:151190534..151238363hg18UCSC Ensembl
Cytoband6q25.1
Allele length
AssemblyAllele length
hg3847830
hg1947830
hg1847830
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10964n54
Supporting Variantsnssv1074350
Samples
Known GenesMTHFD1L, PLEKHG1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv604852
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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