A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1008331



Internal ID18750862
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103621153..103717605hg38UCSC Ensembl
Innerchr1:104163775..104260227hg19UCSC Ensembl
Innerchr1:103965298..104061750hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3896453
hg1996453
hg1896453
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv222n100
Supporting Variantsnssv3495864
Samples
Known GenesAMY1A, AMY1B, AMY1C, AMY2A
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1008331
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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