A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1017980



Internal ID18760513
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:140902063..141021568hg38UCSC Ensembl
Innerchr7:140601863..140721368hg19UCSC Ensembl
Innerchr7:140248332..140367837hg18UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg38119506
hg19119506
hg18119506
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6645n100
Supporting Variantsnssv3664285
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)nsv1017980
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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