A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv602999



Internal ID16043722
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:43270871..43320155hg38UCSC Ensembl
Innerchr6:43238609..43287893hg19UCSC Ensembl
Innerchr6:43346587..43395871hg18UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg3849285
hg1949285
hg1849285
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1058421
Samples
Known GenesCRIP3, SLC22A7, TTBK1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv602999
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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