A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1029430



Internal ID18771961
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:5014256..5183952hg38UCSC Ensembl
Innerchr7:5053887..5223583hg19UCSC Ensembl
Innerchr7:5020413..5190109hg18UCSC Ensembl
Cytoband7p22.1
Allele length
AssemblyAllele length
hg38169697
hg19169697
hg18169697
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6239n100
Supporting Variantsnssv3655053
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)nsv1029430
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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