A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv607478



Internal ID16048201
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:72954185..72984090hg38UCSC Ensembl
Innerchr7:72424724..72454620hg19UCSC Ensembl
Innerchr7:72062660..72092556hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg3829906
hg1929897
hg1829897
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1086693
Samples
Known GenesLOC100101148, LOC541473, NSUN5P2, TRIM73, TRIM74
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv607478
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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