A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1020045



Internal ID18762580
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:84491479..84837012hg38UCSC Ensembl
Innerchr6:85201197..85546730hg19UCSC Ensembl
Innerchr6:85257916..85603449hg18UCSC Ensembl
Cytoband6q14.3
Allele length
AssemblyAllele length
hg38345534
hg19345534
hg18345534
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3648892
Samples
Known GenesTBX18
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1020045
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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