A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1011106



Internal ID18753640
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103615675..103714945hg38UCSC Ensembl
Innerchr1:104158297..104257567hg19UCSC Ensembl
Innerchr1:103959820..104059090hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3899271
hg1999271
hg1899271
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv223n100
Supporting Variantsnssv3478795, nssv3471199
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)nsv1011106
Frequency
Sample Size29084
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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