A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1009054



Internal ID18751585
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103635404..103764609hg38UCSC Ensembl
Innerchr1:104178026..104307231hg19UCSC Ensembl
Innerchr1:103979549..104108754hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38129206
hg19129206
hg18129206
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv226n100
Supporting Variantsnssv3502680, nssv3487715
Samples
Known GenesAMY1A, AMY1B, AMY1C
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1009054
Frequency
Sample Size29084
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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