A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv608012



Internal ID16048735
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:102493560..102642206hg38UCSC Ensembl
Innerchr7:102134007..102282653hg19UCSC Ensembl
Innerchr7:101921012..102069889hg18UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg38148647
hg19148647
hg18148878
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv11541n54
Supporting Variantsnssv1092010
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)nsv608012
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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