A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1004343



Internal ID18746874
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:209705959..209736040hg38UCSC Ensembl
Innerchr1:209879304..209909385hg19UCSC Ensembl
Innerchr1:207945927..207976008hg18UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg3830082
hg1930082
hg1830082
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3487904
Samples
Known GenesHSD11B1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1004343
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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