A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3478184



Internal ID18721272
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:92711254..93175251hg38UCSC Ensembl
Innerchr1:93176811..93640808hg19UCSC Ensembl
Innerchr1:92949399..93413396hg18UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg38463998
hg19463998
hg18463998
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1008602
Supporting Variants
Samples
Known GenesEVI5, FAM69A, MTF2, RPL5, SNORA66, SNORD21, TMED5
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3478184
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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