A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1016049



Internal ID19105267
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:144233973..144392374hg38UCSC Ensembl
Innerchr7:143931066..144089467hg19UCSC Ensembl
Innerchr7:143561999..143720400hg18UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg38158402
hg19158402
hg18158402
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6735n100
Supporting Variantsnssv3674108
Samples
Known GenesARHGEF34P, ARHGEF5, CTAGE4, CTAGE8, OR2A1, OR2A20P, OR2A42, OR2A7, OR2A9P, RNU6-57P
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1016049
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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