A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv607852



Internal ID16395261
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:93910167..93913138hg38UCSC Ensembl
Innerchr7:93539479..93542450hg19UCSC Ensembl
Innerchr7:93377415..93380386hg18UCSC Ensembl
Cytoband7q21.3
Allele length
AssemblyAllele length
hg382972
hg192972
hg182972
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv11511n54
Supporting Variantsnssv1090592, nssv1090591
Samples
Known GenesGNGT1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv607852
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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