A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv602998



Internal ID16043721
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:43245739..43308652hg38UCSC Ensembl
Innerchr6:43213477..43276390hg19UCSC Ensembl
Innerchr6:43321455..43384368hg18UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg3862914
hg1962914
hg1862914
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1153698
SamplesHGDP00695
Known GenesCRIP3, SLC22A7, TTBK1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv602998
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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