A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3471199



Internal ID18717644
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103615675..103714945hg38UCSC Ensembl
Innerchr1:104158297..104257567hg19UCSC Ensembl
Innerchr1:103959820..104059090hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3899271
hg1999271
hg1899271
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1011106
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)nssv3471199
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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