A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv604853



Internal ID16392262
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:150827705..150888861hg38UCSC Ensembl
Innerchr6:151148841..151209997hg19UCSC Ensembl
Innerchr6:151190534..151251690hg18UCSC Ensembl
Cytoband6q25.1
Allele length
AssemblyAllele length
hg3861157
hg1961157
hg1861157
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10964n54
Supporting Variantsnssv1074351
Samples
Known GenesMTHFD1L, PLEKHG1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv604853
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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