A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3480328



Internal ID18722432
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:84566922..84635065hg38UCSC Ensembl
Innerchr1:85032605..85100748hg19UCSC Ensembl
Innerchr1:84805193..84873336hg18UCSC Ensembl
Cytoband1p22.3
Allele length
AssemblyAllele length
hg3868144
hg1968144
hg1868144
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1000325
Supporting Variants
Samples
Known GenesC1orf180, CTBS
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3480328
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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