A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1030195



Internal ID18772726
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:140916028..141046545hg38UCSC Ensembl
Innerchr7:140615828..140746345hg19UCSC Ensembl
Innerchr7:140262297..140392814hg18UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg38130518
hg19130518
hg18130518
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6645n100
Supporting Variantsnssv3664286
Samples
Known GenesBRAF, MRPS33
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1030195
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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