A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1020463



Internal ID18762998
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:118271865..118825200hg38UCSC Ensembl
Innerchr6:118593028..119146363hg19UCSC Ensembl
Innerchr6:118699721..119253055hg18UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg38553336
hg19553336
hg18553335
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3654328, nssv3749519
Samples
Known GenesBRD7P3, CEP85L, LOC100287632, MCM9, PLN, SLC35F1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1020463
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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