A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1013473



Internal ID19102691
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103614702..103725588hg38UCSC Ensembl
Innerchr1:104157324..104268210hg19UCSC Ensembl
Innerchr1:103958847..104069733hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38110887
hg19110887
hg18110887
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv224n100
Supporting Variantsnssv3700727, nssv3700725, nssv3700728, nssv3469615, nssv3700726, nssv3469667, nssv3478821
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)nsv1013473
Frequency
Sample Size11257
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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