A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv700627



Internal ID15090593
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103563013..103580909hg38UCSC Ensembl
Innerchr1:104105635..104123531hg19UCSC Ensembl
Innerchr1:103907158..103925054hg18UCSC Ensembl
Innerchr1:103817656..103835552hg17UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3817897
hg1917897
hg1817897
hg1717897
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)nssv700627
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