A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv700050



Internal ID15436702
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:5477986..5509648hg38UCSC Ensembl
Innerchr12:5587152..5618814hg19UCSC Ensembl
Innerchr12:5457413..5489075hg18UCSC Ensembl
Innerchr12:5457413..5489075hg17UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3831663
hg1931663
hg1831663
hg1731663
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv524170
Supporting Variants
Samples
Known GenesNTF3
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv700050
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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