A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3497216



Internal ID18738171
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:235560712..235607405hg38UCSC Ensembl
Innerchr1:235724012..235770705hg19UCSC Ensembl
Innerchr1:233790635..233837328hg18UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg3846694
hg1946694
hg1846694
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1013413
Supporting Variants
Samples
Known GenesGNG4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3497216
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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