A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1016419



Internal ID18758954
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:102597673..102764974hg38UCSC Ensembl
Innerchr7:102238120..102405421hg19UCSC Ensembl
Innerchr7:102025190..102192657hg18UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg38167302
hg19167302
hg18167468
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6540n100
Supporting Variantsnssv3656111
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)nsv1016419
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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