A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1003115



Internal ID18745647
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103616713..103714462hg38UCSC Ensembl
Innerchr1:104159335..104257084hg19UCSC Ensembl
Innerchr1:103960858..104058607hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3897750
hg1997750
hg1897750
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv224n100
Supporting Variantsnssv3488091
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)nsv1003115
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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