A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1012837



Internal ID18755369
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103613168..103766545hg38UCSC Ensembl
Innerchr1:104155790..104309167hg19UCSC Ensembl
Innerchr1:103957313..104110690hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38153378
hg19153378
hg18153378
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv220n100
Supporting Variantsnssv3482330, nssv3468100, nssv3700706
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)nsv1012837
Frequency
Sample Size29084
Observed Gain2
Observed Loss1
Observed Complex0
Frequencyn/a


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