A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1020716



Internal ID19109934
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:144199147..144408836hg38UCSC Ensembl
Innerchr7:143896240..144105929hg19UCSC Ensembl
Innerchr7:143527173..143736862hg18UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg38209690
hg19209690
hg18209690
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6735n100
Supporting Variantsnssv3672456, nssv3672457
Samples
Known GenesARHGEF34P, ARHGEF5, CTAGE4, CTAGE8, NOBOX, 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)nsv1020716
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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