A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv522963



Internal ID15450256
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:246533294..246584284hg38UCSC Ensembl
Innerchr1:246696596..246747586hg19UCSC Ensembl
Innerchr1:244763219..244814209hg18UCSC Ensembl
Innerchr1:243022637..243073627hg17UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3850991
hg1950991
hg1850991
hg1750991
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv33n21
Supporting Variantsnssv698632
Samples
Known GenesCNST, TFB2M
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv522963
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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