A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3491693



Internal ID18732648
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:236442533..236615109hg38UCSC Ensembl
Innerchr1:236605833..236778409hg19UCSC Ensembl
Innerchr1:234672456..234845032hg18UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38172577
hg19172577
hg18172577
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1006798
Supporting Variants
Samples
Known GenesEDARADD, HEATR1, LGALS8, LGALS8-AS1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3491693
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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