A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv608748



Internal ID16396157
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:144200096..144373547hg38UCSC Ensembl
Innerchr7:143897189..144070640hg19UCSC Ensembl
Innerchr7:143528122..143701573hg18UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg38173452
hg19173452
hg18173452
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv11668n54
Supporting Variantsnssv1096627, nssv1096626
Samples
Known GenesARHGEF34P, 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)nsv608748
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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