A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3170230



Internal ID21314291
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:79403732..79646256hg38UCSC Ensembl
Outerchr6:79400604..79651263hg38UCSC Ensembl
Innerchr6:80113449..80355973hg19UCSC Ensembl
Outerchr6:80110321..80360980hg19UCSC Ensembl
Innerchr6:80170168..80412692hg18UCSC Ensembl
Outerchr6:80167040..80417699hg18UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg38250660
hg19250660
hg18250660
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14243737
SamplesMLY_14
Known GenesLCA5, SH3BGRL2
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nsv3170230
Frequency
Sample Size93
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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