A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv700146



Internal ID15090112
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103563013..103585996hg38UCSC Ensembl
Innerchr1:104105635..104128618hg19UCSC Ensembl
Innerchr1:103907158..103930141hg18UCSC Ensembl
Innerchr1:103817656..103840639hg17UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3822984
hg1922984
hg1822984
hg1722984
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv517215
Supporting Variants
Samples
Known GenesACTG1P4, AMY2B
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv700146
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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