A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv608070



Internal ID16395479
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:105863755..105893289hg38UCSC Ensembl
Innerchr7:105504201..105533735hg19UCSC Ensembl
Innerchr7:105291437..105320971hg18UCSC Ensembl
Cytoband7q22.2
Allele length
AssemblyAllele length
hg3829535
hg1929535
hg1829535
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1156562
Samples1798860102_A
Known GenesATXN7L1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv608070
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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