A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv527464



Internal ID15454757
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:246535351..246578855hg38UCSC Ensembl
Innerchr1:246698653..246742157hg19UCSC Ensembl
Innerchr1:244765276..244808780hg18UCSC Ensembl
Innerchr1:243024694..243068198hg17UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3843505
hg1943505
hg1843505
hg1743505
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv33n21
Supporting Variantsnssv703907
Samples
Known GenesCNST, TFB2M
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv527464
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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