A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1030384



Internal ID18772915
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:5026550..5170924hg38UCSC Ensembl
Innerchr7:5066181..5210555hg19UCSC Ensembl
Innerchr7:5032707..5177081hg18UCSC Ensembl
Cytoband7p22.1
Allele length
AssemblyAllele length
hg38144375
hg19144375
hg18144375
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6239n100
Supporting Variantsnssv3655055
Samples
Known GenesRBAK, RBAKDN, RBAK-RBAKDN, ZNF890P
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1030384
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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