A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1000715



Internal ID18743246
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103585996..103697055hg38UCSC Ensembl
Innerchr1:104128618..104239677hg19UCSC Ensembl
Innerchr1:103930141..104041200hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38111060
hg19111060
hg18111060
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv219n100
Supporting Variantsnssv3464678
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)nsv1000715
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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