A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3464965



Internal ID18714298
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103613168..103771419hg38UCSC Ensembl
Innerchr1:104155790..104314041hg19UCSC Ensembl
Innerchr1:103957313..104115564hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38158252
hg19158252
hg18158252
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1002174
Supporting Variants
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)nssv3464965
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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