A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3648810



Internal ID18600405
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:79403732..79646256hg38UCSC Ensembl
Innerchr6:80113449..80355973hg19UCSC Ensembl
Innerchr6:80170168..80412692hg18UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg38242525
hg19242525
hg18242525
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1027388
Supporting Variants
Samples
Known GenesLCA5, SH3BGRL2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3648810
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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