A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1020121



Internal ID19109340
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:144199147..144416681hg38UCSC Ensembl
Innerchr7:143896240..144113774hg19UCSC Ensembl
Innerchr7:143527173..143744707hg18UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg38217535
hg19217535
hg18217535
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6735n100
Supporting Variantsnssv3672459, nssv3672461, nssv3672460
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)nsv1020121
Frequency
Sample Size11257
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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