A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1024480



Internal ID19113697
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:144220496..144378798hg38UCSC Ensembl
Innerchr7:143917589..144075891hg19UCSC Ensembl
Innerchr7:143548522..143706824hg18UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg38158303
hg19158303
hg18158303
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6735n100
Supporting Variantsnssv3673933
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)nsv1024480
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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