A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3755472



Internal ID18707067
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:102597673..102717306hg38UCSC Ensembl
Innerchr7:102238120..102357753hg19UCSC Ensembl
Innerchr7:102025190..102144989hg18UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg38119634
hg19119634
hg18119800
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1023476
Supporting Variants
Samples
Known GenesPOLR2J2, POLR2J3, RASA4, RASA4B, SPDYE2, SPDYE2B, UPK3BL
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3755472
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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