A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3705507



Internal ID18657102
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:209712857..209797010hg38UCSC Ensembl
Innerchr1:209886202..209970355hg19UCSC Ensembl
Innerchr1:207952825..208036978hg18UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg3884154
hg1984154
hg1884154
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1006632
Supporting Variants
Samples
Known GenesC1orf74, HSD11B1, IRF6, TRAF3IP3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3705507
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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