A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv604571



Internal ID16391980
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:120940769..121079835hg38UCSC Ensembl
Innerchr6:121261915..121400981hg19UCSC Ensembl
Innerchr6:121303614..121442680hg18UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg38139067
hg19139067
hg18139067
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1072360
Samples
Known GenesTBC1D32
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv604571
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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