A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv688568



Internal ID15078534
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103563013..103787255hg38UCSC Ensembl
Innerchr1:104105635..104329877hg19UCSC Ensembl
Innerchr1:103907158..104131400hg18UCSC Ensembl
Innerchr1:103817656..104041898hg17UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38224243
hg19224243
hg18224243
hg17224243
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv517215
Supporting Variants
Samples
Known GenesACTG1P4, AMY1A, AMY1B, AMY1C, AMY2A, AMY2B
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv688568
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer