A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv608014



Internal ID16048737
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:102503769..102616425hg38UCSC Ensembl
Innerchr7:102144216..102256872hg19UCSC Ensembl
Innerchr7:101931221..102044092hg18UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg38112657
hg19112657
hg18112872
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv11541n54
Supporting Variantsnssv1092012
Samples
Known GenesPOLR2J3, RASA4, RASA4B, SPDYE2, SPDYE2B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv608014
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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