A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1034446



Internal ID19123668
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:5026550..5069139hg38UCSC Ensembl
Innerchr7:5066181..5108770hg19UCSC Ensembl
Innerchr7:5032707..5075296hg18UCSC Ensembl
Cytoband7p22.1
Allele length
AssemblyAllele length
hg3842590
hg1942590
hg1842590
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6240n100
Supporting Variantsnssv3752801
Samples
Known GenesRBAK, RBAK-RBAKDN
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1034446
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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