A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1002619



Internal ID18745151
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103613168..103714945hg38UCSC Ensembl
Innerchr1:104155790..104257567hg19UCSC Ensembl
Innerchr1:103957313..104059090hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38101778
hg19101778
hg18101778
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv222n100
Supporting Variantsnssv3479887, nssv3466593, nssv3466431, nssv3476568
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)nsv1002619
Frequency
Sample Size29084
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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