A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv605998



Internal ID16046721
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:5995434..6062403hg38UCSC Ensembl
Innerchr7:6035065..6102034hg19UCSC Ensembl
Innerchr7:6001591..6068560hg18UCSC Ensembl
Cytoband7p22.1
Allele length
AssemblyAllele length
hg3866970
hg1966970
hg1866970
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1078833
Samples
Known GenesAIMP2, ANKRD61, EIF2AK1, PMS2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv605998
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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