A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv608016



Internal ID16048739
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:102503769..102682009hg38UCSC Ensembl
Innerchr7:102144216..102322456hg19UCSC Ensembl
Innerchr7:101931221..102109692hg18UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg38178241
hg19178241
hg18178472
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv11542n54
Supporting Variantsnssv1092014, nssv1092016, nssv1092015, nssv1092017
Samples
Known GenesPOLR2J2, POLR2J3, RASA4, RASA4B, SPDYE2, SPDYE2B, UPK3BL
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv608016
Frequency
Sample Size17421
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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