A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1029058



Internal ID18771590
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:102597673..102766288hg38UCSC Ensembl
Innerchr7:102238120..102406735hg19UCSC Ensembl
Innerchr7:102025190..102193971hg18UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg38168616
hg19168616
hg18168782
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6540n100
Supporting Variantsnssv3656112
Samples
Known GenesFAM185A, POLR2J2, 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)nsv1029058
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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