A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3647222



Internal ID18945503
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:117965928..118148239hg38UCSC Ensembl
Innerchr5:117301623..117483934hg19UCSC Ensembl
Innerchr5:117329522..117511833hg18UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg38182312
hg19182312
hg18182312
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1016903
Supporting Variants
Samples
Known GenesLOC102467224
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3647222
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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