A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1030007



Internal ID19119226
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:33093202..33145858hg38UCSC Ensembl
Innerchr7:33132814..33185470hg19UCSC Ensembl
Innerchr7:33099339..33151995hg18UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg3852657
hg1952657
hg1852657
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6319n100
Supporting Variantsnssv3752948
Samples
Known GenesBBS9, RP9
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1030007
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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