A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv608718



Internal ID16396127
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:144192231..144372984hg38UCSC Ensembl
Innerchr7:143889324..144070077hg19UCSC Ensembl
Innerchr7:143520257..143701010hg18UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg38180754
hg19180754
hg18180754
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv11668n54
Supporting Variantsnssv1096576
Samples
Known GenesARHGEF34P, ARHGEF35, ARHGEF5, CTAGE4, CTAGE8, OR2A1, OR2A20P, OR2A42, OR2A7, OR2A9P, RNU6-57P
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv608718
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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